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: C0265971
Disease: Acrokeratosis Verruciformis of Hopf
Acrokeratosis Verruciformis of Hopf 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 1 2 0.740 None 1.000 6 2 2003 2017
CUI: C1852297
Disease: Darier Disease, Segmental
Darier Disease, Segmental 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 2 0.130 None 1.000 3 2 2000 2011
CUI: C0473575
Disease: Acantholytic Dyskeratotic Epidermal Nevus
Acantholytic Dyskeratotic Epidermal Nevus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Neoplastic Process 1 0.300 None 1.000 2 2006 2010
CUI: C1852296
Disease: Darier Disease, Acral Hemorrhagic Type
Darier Disease, Acral Hemorrhagic Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 2 0.100 None 0 2
CUI: C1852311
Disease: Subungual hyperkeratotic fragments
Subungual hyperkeratotic fragments 		phenotype Finding 1 0.100 None 0
CUI: C1844632
Disease: Anal mucosal leukoplakia
Anal mucosal leukoplakia 		phenotype Finding 2 0.100 None 0
CUI: C0001202
Disease: Acrokeratosis
Acrokeratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0376416
Disease: Hibernation, Myocardial
Hibernation, Myocardial 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 4 0.300 None 1.000 1 2006 2006
CUI: C0423776
Disease: Palmar pit
Palmar pit 		phenotype Finding 4 0.100 None 0
CUI: C1852301
Disease: Plantar pits
Plantar pits 		phenotype Finding 4 0.100 None 0
CUI: C0206145
Disease: Stunned Myocardium
Stunned Myocardium 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2006 2006
CUI: C4534351
Disease: Major psychiatric illness
Major psychiatric illness 		disease Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2018 2018
CUI: C0206146
Disease: Myocardial Stunning
Myocardial Stunning 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 6 0.300 None 1.000 1 2006 2006
CUI: C0341047
Disease: Hypertrophy of parotid gland
Hypertrophy of parotid gland 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0015190
Disease: Euthyroid Sick Syndromes
Euthyroid Sick Syndromes 		disease Endocrine System Diseases Disease or Syndrome 9 1 0.200 None 1.000 1 2017 2017
CUI: C0000887
Disease: Acantholysis
Acantholysis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Pathologic Function 11 0.100 None 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 20 0.100 None 0
CUI: C1332200
Disease: Adult Diffuse Astrocytoma
Adult Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 21 2 0.010 None 1.000 1 2017 2017
CUI: C3899668
Disease: Childhood Diffuse Astrocytoma
Childhood Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 21 2 0.010 None 1.000 1 2017 2017
CUI: C0206720
Disease: Squamous Cell Neoplasms
Squamous Cell Neoplasms 		group Neoplasms Neoplastic Process 22 0.010 None 1.000 1 2010 2010
CUI: C0423820
Disease: Ridged nails
Ridged nails 		phenotype Finding 22 0.100 None 0
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 7 0.010 None 1.000 1 2001 2001
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 31 0.010 None 1.000 1 2017 2017
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 31 2 0.010 None 1.000 1 2012 2012
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality 35 4 0.010 None 1.000 1 2009 2009