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: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.300 strong 1.000 1 2019 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.300 strong 1.000 1 2019 2019
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 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: C4023501
Disease: Focal myoclonic seizures
Focal myoclonic seizures
disease Nervous System Diseases Disease or Syndrome 4 0.300 strong 1.000 1 2019 2019
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 123 3 0.300 strong 1.000 1 2019 2019
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.110 None 1.000 3 1 2008 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.110 None 1.000 2 2 2011 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 3 3 2016 2019
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 2 2 2016 2017
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 2 2 2018 2018
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.100 None 1.000 1 1 2019 2019
Malignant neoplasm of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 173 375 0.100 None 1.000 1 1 2019 2019
CUI: C0406208
Disease: Suntan
Suntan
phenotype Organ or Tissue Function 53 94 0.100 None 1.000 1 1 2018 2018
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
disease Finding 166 373 0.100 None 1.000 1 1 2019 2019
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.100 None 1.000 1 1 2010 2010
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
phenotype Finding 165 368 0.100 None 1.000 1 1 2019 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
disease Finding 166 374 0.100 None 1.000 1 1 2019 2019
Malignant melanoma of skin of upper limb
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2018 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2018 2018
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
phenotype Laboratory Procedure 62 522 0.100 None 1.000 1 2 2010 2010
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 1.000 1 1 2019 2019
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
phenotype Laboratory Procedure 62 522 0.100 None 1.000 1 2 2010 2010