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: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.100 None 0.867 15 2017 2020
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.030 None 1.000 3 2018 2020
CUI: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.010 None 1.000 1 2017 2017
CUI: C0035450
Disease: Rheumatoid Nodule
Rheumatoid Nodule
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 26 3 0.010 None 1.000 1 2018 2018
CUI: C0238479
Disease: Transient osteoporosis of hip
Transient osteoporosis of hip
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Acquired Abnormality 1 0.010 None 1.000 1 2017 2017
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2019 2019
CUI: C0751633
Disease: Carotid Artery Plaque
Carotid Artery Plaque
disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 41 3 0.010 None 1.000 1 2019 2019
CUI: C1532195
Disease: Gossypiboma
Gossypiboma
phenotype Wounds and Injuries Acquired Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C0457193
Disease: Soft tissue mass
Soft tissue mass
phenotype Anatomical Abnormality 12 1 0.030 None 1.000 3 2017 2018
CUI: C0019270
Disease: Hernia
Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.010 None 1.000 1 2017 2017
CUI: C0333311
Disease: Sequestrum
Sequestrum
disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.020 None 1.000 2 2019 2019
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.020 None 1.000 2 2018 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.020 None 1.000 2 2019 2019
Congenital arteriovenous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.010 None 1.000 1 2017 2017
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 27 0.010 None 1.000 1 2019 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2019 2019
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 67 10 0.010 None 1.000 1 2018 2018
CUI: C0040124
Disease: Thyroglossal Cyst
Thyroglossal Cyst
disease Neoplasms Congenital Abnormality 8 0.010 None 1.000 1 2019 2019
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.010 None 1.000 1 2017 2017
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 267 80 0.010 None 1.000 1 2017 2017
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 51 3 0.010 None 1.000 1 2017 2017
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia
disease Congenital Abnormality 53 5 0.010 None 1.000 1 2017 2017
CUI: C0265780
Disease: Congenital absence of lung
Congenital absence of lung
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 11 0.010 None 1.000 1 2017 2017