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: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 48 9 0.100 None 0 1
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
Small for gestational age (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0 2
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0 2
CUI: C0232180
Disease: Cardiac shunt
Cardiac shunt
phenotype Finding 1 2 0.100 None 0 2
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 114 7 0.100 None 0
CUI: C4022484
Disease: Clinodactyly of the 4th finger
Clinodactyly of the 4th finger
disease Congenital Abnormality 2 0.100 None 0
Abnormal brain FDG positron emission tomography
disease Anatomical Abnormality 18 0.100 None 0
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 0.100 None 0
Congenital ear anomaly NOS (disorder)
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.100 None 0
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system
disease Pathologic Function 34 3 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 2
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: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus
phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears
phenotype Finding 13 3 0.100 None 0 1
CUI: C3887499
Disease: Renal cyst
Renal cyst
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.100 None 0
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay
phenotype Finding 36 13 0.100 None 0
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 100 2 0.100 None 0
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease Digestive System Diseases Disease or Syndrome 82 26 0.100 None 0
CUI: C0162275
Disease: Ketonuria
Ketonuria
disease Nutritional and Metabolic Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 55 13 0.100 None 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.100 None 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.100 None 0
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.100 None 0