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: C3670629
Disease: Orthokeratotic hyperkeratosis
Orthokeratotic hyperkeratosis 		disease Disease or Syndrome 3 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		phenotype Finding 52 0.100 None 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		phenotype Finding 87 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C0013592
Disease: Ectropion
Ectropion 		disease Eye Diseases Disease or Syndrome 50 3 0.100 None 0
CUI: C0017086
Disease: Gangrene
Gangrene 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 69 4 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 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: C0151908
Disease: Dry skin
Dry skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 2 0.100 None 0
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0
CUI: C0011175
Disease: Dehydration
Dehydration 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.100 None 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
CUI: C0237849
Disease: Peeling of skin
Peeling of skin 		phenotype Finding 21 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2013 2019
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2019 2019
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2019 2019