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: C0016506
Disease: Foot Deformities
Foot Deformities
group Musculoskeletal Diseases Anatomical Abnormality 66 5 0.300 strong 1.000 1 2019 2019
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
disease Finding 127 8 0.300 strong 1.000 1 2019 2019
CUI: C4021812
Disease: Abnormality of the head
Abnormality of the head
disease Anatomical Abnormality 9 0.300 strong 1.000 1 2019 2019
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 0.300 strong 1.000 1 2019 2019
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.300 strong 1.000 1 2019 2019
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.300 strong 1.000 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.300 strong 1.000 1 2019 2019
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.300 strong 1.000 1 2019 2019
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.300 strong 1.000 1 2019 2019
CUI: C0018564
Disease: Hand deformities
Hand deformities
group Musculoskeletal Diseases Anatomical Abnormality 60 2 0.300 strong 1.000 1 2019 2019
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality
disease Finding 24 5 0.300 strong 1.000 1 2019 2019
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 59 13 0.010 None 1.000 1 2019 2019