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: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis atrichia photophobia syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.740 None 1.000 8 6 1997 2015
CUI: C4746956
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIX
OSTEOGENESIS IMPERFECTA, TYPE XIX 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2016 2016
CUI: C1275091
Disease: Ichthyosis follicularis with alopecia and photophobia (IFAP)
Ichthyosis follicularis with alopecia and photophobia (IFAP) 		disease Disease or Syndrome; Congenital Abnormality 2 1 0.100 None 1.000 12 1 2009 2019
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.200 None 1.000 12 1 2005 2019
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 4 1 0.100 None 1.000 10 1 1992 2016
CUI: C4531223
Disease: Ichthyosis follicularis
Ichthyosis follicularis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 1 0.060 None 1.000 6 1 2011 2019
CUI: C3887525
Disease: Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratosis Follicularis Spinulosa Decalvans, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 2 1 0.740 strong 1.000 5 1 2010 2016
CUI: C3502469
Disease: Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 1 0.320 None 1.000 2 1 2012 2013
CUI: C3806745
Disease: PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED 		disease Disease or Syndrome 1 1 0.700 limited 1.000 2 1 2013 2014
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: C2609071
Disease: Olmsted syndrome
Olmsted syndrome 		disease Disease or Syndrome 5 3 0.340 None 1.000 5 2013 2017
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: 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: 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: 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: C0023827
Disease: liposarcoma
liposarcoma 		disease Neoplasms Neoplastic Process 200 6 0.020 None 1.000 2 2011 2012
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: 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: 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: 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: 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: C0022579
Disease: Keratoderma
Keratoderma 		disease Skin and Connective Tissue Diseases Congenital Abnormality 24 2 0.010 None 1.000 1 2014 2014
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		disease Eye Diseases Disease or Syndrome 10 16 0.010 None 1.000 1 1997 1997