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: C0024031
Disease: Low Back Pain
Low Back Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 88 11 0.010 None 1.000 1 2014 2014
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 208 28 0.100 None 0
CUI: C0024236
Disease: Lymphedema
Lymphedema 		disease Hemic and Lymphatic Diseases Pathologic Function 61 1 0.100 None 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		phenotype Digestive System Diseases Pathologic Function 121 4 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0542571
Disease: Facial edema
Facial edema 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 9 1 0.100 None 0
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 2 2019 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2015 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.020 None 1.000 2 2014 2018
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.020 None 1.000 2 2014 2018
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.020 None 1.000 2 2014 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2017 2017
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease Neoplasms Neoplastic Process 385 8 0.010 None 1.000 1 2001 2001
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2015 2015
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 504 30 0.010 None 1.000 1 2013 2013
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 41 83 0.010 None 1.000 1 2016 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2017 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2015 2015
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		disease Neoplasms Neoplastic Process 22 1 0.100 None 0
CUI: C0347509
Disease: Benign neoplasm of central nervous system
Benign neoplasm of central nervous system 		group Neoplasms; Nervous System Diseases Neoplastic Process 21 0.100 None 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.300 None 1.000 1 2011 2011
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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2017 2017
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2012 2012