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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 1.000 1 2 2016 2016
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 1.000 1 1 2016 2016
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		phenotype Laboratory Procedure 55 427 0.100 None 1.000 1 26 2013 2013
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 1.000 1 2 2016 2016
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 1.000 1 1 2016 2016
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.100 None 0
CUI: C0019825
Disease: Hoarseness
Hoarseness 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 84 3 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0 2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 166 14 0.100 None 0 1
CUI: C0043094
Disease: Weight Gain
Weight Gain 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.100 None 0 1
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		phenotype Nervous System Diseases Finding 227 27 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0234860
Disease: Weak cry
Weak cry 		phenotype Finding 42 4 0.100 None 0 1
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0 1
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0 1
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		phenotype Skin and Connective Tissue Diseases Finding 60 5 0.100 None 0