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: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 116 2 0.100 0
CUI: C0151740
Disease: Intracranial Hypertension
Intracranial Hypertension
disease Nervous System Diseases Disease or Syndrome 34 0.100 0
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype Finding 102 0.100 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage
phenotype Digestive System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 60 0.100 0
CUI: C1860335
Disease: Axillary freckling
Axillary freckling
phenotype Finding 6 7 0.100 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.100 0
CUI: C0014474
Disease: Ependymoma
Ependymoma
disease Neoplasms Neoplastic Process 127 3 0.100 0
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
disease Neoplasms; Nervous System Diseases Neoplastic Process 165 3 0.300 strong 0
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 27 0.300 0
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.100 0
CUI: C0009806
Disease: Constipation
Constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 207 7 0.100 0
CUI: C1844947
Disease: Death in early childhood
Death in early childhood
phenotype Finding 103 1 0.100 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 289 198 0.100 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 459 34 0.100 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
phenotype Sign or Symptom 131 3 0.100 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 411 202 0.100 0
CUI: C0232487
Disease: Abdominal discomfort
Abdominal discomfort
phenotype Sign or Symptom 137 0.100 0
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 396 11 0.100 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 160 0.100 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 834 23 0.100 0
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.400 0 1
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype Finding 48 0.100 0
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus
disease Neoplastic Process 26 0.100 0
Hereditary nonpolyposis colorectal carcinoma
disease Neoplastic Process 25 3 0.100 0 2