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: C1855849
Disease: Bartter syndrome, antenatal , type 2
Bartter syndrome, antenatal , type 2 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 14 0.910 strong 1.000 6 14 1996 2012
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 47 8 0.400 None 1.000 29 2 1997 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.310 None 1.000 2 2012 2018
CUI: C1866495
Disease: Bartter syndrome, antenatal type 1
Bartter syndrome, antenatal type 1 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 3 15 0.300 None 1.000 3 1996 2013
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.300 None 1.000 1 2012 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0
CUI: C0348460
Disease: Other hyperaldosteronism
Other hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 4 0.200 None 1.000 1 2002 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.200 None 1.000 1 2011 2011
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.130 None 1.000 3 2009 2017
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 84 6 0.120 None 1.000 2 2011 2017
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 2003 2003
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 0.110 None 1.000 1 1 2011 2011
CUI: C0085602
Disease: Polydipsia
Polydipsia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 61 5 0.110 None 1.000 1 2002 2002
CUI: C0011175
Disease: Dehydration
Dehydration 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.110 None 1.000 1 2018 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 3 2013 2013
CUI: C0240783
Disease: Increased circulating renin level
Increased circulating renin level 		phenotype Finding 10 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		disease Musculoskeletal Diseases Disease or Syndrome 34 5 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0232831
Disease: Impairment of urinary concentration
Impairment of urinary concentration 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 5 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
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
CUI: C0595901
Disease: Serum chloride level decreased (finding)
Serum chloride level decreased (finding) 		phenotype Nutritional and Metabolic Diseases Finding 7 0.100 None 0