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: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0
CUI: C4025296
Disease: Brittle scalp hair
Brittle scalp hair 		phenotype Finding 2 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		phenotype Anatomical Abnormality 24 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: 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 0.100 None 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 60 4 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype Finding 137 0.100 None 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 55 2 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 85 7 0.100 None 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 68 8 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.100 None 0
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 69 6 0.100 None 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 253 18 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 2
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 31 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 0
CUI: C0002994
Disease: Angioedema
Angioedema 		phenotype Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 18 8 0.100 None 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.100 None 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.100 None 0