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: 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: 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 12 0.720 None 1.000 6 12 2003 2012
CUI: C0155196
Disease: Cicatricial ectropion
Cicatricial ectropion 		disease Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0423773
Disease: Scaly skin
Scaly skin 		phenotype Sign or Symptom 4 4 0.010 None 1.000 1 2014 2014
CUI: C3543867
Disease: Collodion Fetus
Collodion Fetus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.300 None 1.000 1 2006 2006
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 15 0.900 None 1.000 7 15 2006 2016
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 80 0.300 None 1.000 1 2006 2006
CUI: C3550430
Disease: Eclabion
Eclabion 		phenotype Finding 6 2 0.100 None 0 2
CUI: C3536797
Disease: Ichthyosis Congenita II
Ichthyosis Congenita II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 7 0.300 None 1.000 1 2006 2006
CUI: C4020869
Disease: Abnormality of abdomen morphology
Abnormality of abdomen morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		phenotype Finding 21 2 0.100 None 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease Finding 24 5 0.100 None 0
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 30 4 0.010 None 1.000 1 2018 2018
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 31 11 0.200 None 1.000 11 2007 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 6 0.010 None 1.000 1 2018 2018
CUI: C0392163
Disease: Corneal erosion
Corneal erosion 		disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
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 36 16 0.700 limited 1.000 16 2003 2020
CUI: C0473583
Disease: Nevus elasticus
Nevus elasticus 		disease Neoplasms Neoplastic Process 37 5 0.010 None 1.000 1 2005 2005
CUI: C0239594
Disease: Short finger
Short finger 		phenotype Finding 37 1 0.100 None 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype Finding 39 3 0.100 None 0
CUI: C0013592
Disease: Ectropion
Ectropion 		disease Eye Diseases Disease or Syndrome 50 3 0.110 None 1.000 1 2 2016 2016
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		phenotype Pathological Conditions, Signs and Symptoms Finding 52 3 0.100 None 0 2
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		phenotype Finding 52 0.100 None 0
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 57 323 0.010 None 1.000 1 2005 2005