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.
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
disease Disease or Syndrome 1 11 0.710 None 1.000 5 11 2013 2017
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
disease Disease or Syndrome 1 3 0.400 limited 1.000 1 3 2013 2013
CUI: C0086774
Disease: Cold paroxysmal hemoglobinuria
Cold paroxysmal hemoglobinuria
disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2015 2015
CUI: C1859495
Disease: Episodic hemolytic anemia
Episodic hemolytic anemia
phenotype Hemic and Lymphatic Diseases Finding 4 2 0.100 None 0 2
CUI: C0746495
Disease: Recurrent meningitis
Recurrent meningitis
disease Infections; Nervous System Diseases Disease or Syndrome 6 2 0.100 None 0 2
CUI: C0019050
Disease: Hemoglobinuria, Paroxysmal
Hemoglobinuria, Paroxysmal
disease Hemic and Lymphatic Diseases Disease or Syndrome 9 0.300 None 1.000 1 2015 2015
CUI: C0521618
Disease: Stenosis of ureter
Stenosis of ureter
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 10 0.100 None 0
CUI: C0343065
Disease: Dermatographic urticaria
Dermatographic urticaria
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 12 1 0.100 None 0 1
CUI: C3887590
Disease: Stricture of ureter
Stricture of ureter
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 12 0.100 None 0
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 27 29 0.010 None 1.000 1 3 2014 2014
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder)
disease Skin and Connective Tissue Diseases Anatomical Abnormality 27 7 0.100 None 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus
phenotype Finding 32 5 0.100 None 0
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 41 30 0.100 None 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum
phenotype Finding 42 5 0.100 None 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 50 0.100 None 0
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.030 None 1.000 3 2014 2019
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement
phenotype Laboratory Procedure 58 306 0.100 None 1.000 1 1 2017 2017
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria
phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.100 None 0
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 80 16 0.010 None 1.000 1 2 2014 2014
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 100 2 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 106 20 0.100 None 0
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.100 None 0
CUI: C0014877
Disease: Esotropia
Esotropia
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 121 39 0.100 None 0