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: C0028866
Disease: Oculomotor Nerve Paralysis
Oculomotor Nerve Paralysis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 22 1 0.100 None 0
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		phenotype Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 22 1 0.100 None 0
CUI: C1704374
Disease: Carcinoma of Endocrine Gland
Carcinoma of Endocrine Gland 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 22 0.300 strong 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		phenotype Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Finding 23 0.100 None 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 23 8 0.100 None 0
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 24 1 0.100 None 0
CUI: C1858592
Disease: Carney Triad
Carney Triad 		disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 25 6 0.010 None 1.000 1 2009 2009
CUI: C0002063
Disease: Alkalosis
Alkalosis 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 25 2 0.100 None 0
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C0271578
Disease: Female hypogonadism syndrome
Female hypogonadism syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 25 0.100 None 0
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		group Nutritional and Metabolic Diseases Disease or Syndrome 26 7 0.010 None 1.000 1 2013 2013
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 26 0.100 None 0
CUI: C3899403
Disease: Decreased Concentration
Decreased Concentration 		phenotype Sign or Symptom 27 1 0.010 None 1.000 1 2001 2001
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		phenotype Male Urogenital Diseases Finding 30 0.100 None 0
CUI: C1866241
Disease: Broad foot
Broad foot 		phenotype Musculoskeletal Diseases Finding 30 0.100 None 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 0.100 None 0
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 31 121 0.010 None 1.000 1 2019 2019
CUI: C0027583
Disease: Nematode infections
Nematode infections 		group Infections Disease or Syndrome 33 0.010 None 1.000 1 2000 2000
CUI: C0152031
Disease: Joint swelling
Joint swelling 		phenotype Pathological Conditions, Signs and Symptoms Finding 33 0.100 None 0
CUI: C0426870
Disease: Large hand
Large hand 		phenotype Finding 35 7 0.100 None 0
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis 		disease Musculoskeletal Diseases Anatomical Abnormality 35 0.100 None 0
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic 		disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2012 2012
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular 		disease Neoplasms Neoplastic Process 37 0.300 None 1.000 1 2012 2012
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 2 0.100 None 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 1 0.100 None 0