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: C2609071
Disease: Olmsted syndrome
Olmsted syndrome 		disease Disease or Syndrome 5 3 0.340 None 1.000 5 2013 2017
CUI: C0343057
Disease: Keratosis pilaris decalvans
Keratosis pilaris decalvans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 0.340 None 1.000 5 2010 2016
CUI: C2936846
Disease: Scarring alopecia
Scarring alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 8 0.330 strong 1.000 4 2008 2013
CUI: C0086873
Disease: Pseudopelade
Pseudopelade 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 23 0.330 strong 1.000 4 2008 2013
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 30 4 0.130 None 1.000 3 2008 2012
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.130 None 1.000 3 1992 2009
CUI: C0702167
Disease: Atrichia
Atrichia 		disease Endocrine System Diseases Disease or Syndrome 5 0.030 None 1.000 3 2012 2014
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		disease Neoplasms Neoplastic Process 143 6 0.020 None 1.000 2 2011 2012
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		disease Neoplasms Neoplastic Process 143 6 0.020 None 1.000 2 2011 2012
CUI: C0023827
Disease: liposarcoma
liposarcoma 		disease Neoplasms Neoplastic Process 200 6 0.020 None 1.000 2 2011 2012
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.120 None 1.000 2 2010 2016
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 95 3 0.120 None 1.000 2 1997 2014
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 6 0.020 None 1.000 2 2009 2013
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 80 11 0.010 None 1.000 1 2014 2014
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.110 None 1.000 1 2014 2014
CUI: C0240444
Disease: Pachyonychia
Pachyonychia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.010 None 1.000 1 2014 2014
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 77 32 0.010 None 1.000 1 1999 1999
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2012 2012
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 900 148 0.010 None 1.000 1 2018 2018
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.110 None 1.000 1 2008 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2011 2011
CUI: C0022579
Disease: Keratoderma
Keratoderma 		disease Skin and Connective Tissue Diseases Congenital Abnormality 24 2 0.010 None 1.000 1 2014 2014
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 27 0.010 None 1.000 1 2018 2018
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 29 0.010 None 1.000 1 2018 2018
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.010 None 1.000 1 1978 1978