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: C1836302
Disease: Carotid Intimal Medial Thickness 1
Carotid Intimal Medial Thickness 1
disease Cardiovascular Diseases Disease or Syndrome 1 0.500 None 0
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 30 19 0.300 None 0
CUI: C4016701
Disease: INSULIN RESISTANCE, SEVERE, DIGENIC
INSULIN RESISTANCE, SEVERE, DIGENIC
phenotype Finding 2 0.300 strong 0
Abdominal obesity metabolic syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.200 None 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
disease Disease or Syndrome 168 27 0.100 None 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 0
CUI: C0013537
Disease: Eclampsia
Eclampsia
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 241 38 0.100 None 0
CUI: C0013390
Disease: Dysmenorrhea
Dysmenorrhea
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 71 4 0.100 None 0
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness
phenotype Nervous System Diseases Sign or Symptom 92 6 0.100 None 0
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 58 2 0.100 None 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 26 0.100 None 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
disease Stomatognathic Diseases Congenital Abnormality 181 19 0.100 None 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate
phenotype Finding 123 0.100 None 0
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval
phenotype Pathologic Function 25 1 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: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.100 None 0
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 20 10 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: C0428977
Disease: Bradycardia
Bradycardia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 63 2 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE
phenotype Finding 64 0.100 None 0
CUI: C0038449
Disease: Stricture of artery
Stricture of artery
phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy
phenotype Organ or Tissue Function 21 2 0.100 None 0