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: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 24 0.060 None 1.000 6 1998 2019
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.010 None 1.000 1 2003 2003
CUI: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma 		disease Skin and Connective Tissue Diseases Congenital Abnormality 10 1 0.010 None 1.000 1 1998 1998
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 6 0.100 None 0
CUI: C1858805
Disease: Vohwinkel Syndrome, Variant Form
Vohwinkel Syndrome, Variant Form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.550 None 1.000 7 1998 2010
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.030 None 0.667 3 2004 2009
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.020 None 1.000 2 2006 2008
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.020 None 1.000 2 2000 2010
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.010 None 1.000 1 2005 2005
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.010 None 1.000 1 2018 2018
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2019 2019
CUI: C0029182
Disease: orbit (eye disorders)
orbit (eye disorders) 		group Eye Diseases Disease or Syndrome 64 0.010 None 1.000 1 2019 2019
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 0.110 None 1.000 1 2001 2001
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 0.010 None 1.000 1 2001 2001
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 13 8 0.310 None 1.000 1 2014 2014
CUI: C0334166
Disease: Pseudoainhum
Pseudoainhum 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2014 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2019 2019
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.110 None 1.000 1 2001 2001
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 31 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C0263537
Disease: Onychogryposis
Onychogryposis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.100 None 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.100 None 0
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque 		phenotype Finding 19 107 0.100 None 0