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: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive
phenotype Finding 38 0.100 None 0
CUI: C1720037
Disease: Supranuclear gaze palsy
Supranuclear gaze palsy
phenotype Finding 19 1 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.100 None 0
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0
CUI: C0030554
Disease: Paresthesia
Paresthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0917801
Disease: Sleeplessness
Sleeplessness
phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.100 None 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
group Nervous System Diseases Finding 55 11 0.100 None 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0035579
Disease: Rickets
Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.100 None 0
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 11 0.100 None 0
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 137 52 0.300 None 0
CUI: C0012569
Disease: Diplopia
Diplopia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 75 5 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: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion
phenotype Behavior and Behavior Mechanisms Mental Process 147 14 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
phenotype Finding 75 10 0.100 None 0
CUI: C0018989
Disease: Hemiparesis
Hemiparesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 91 6 0.100 None 0