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: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 134 79 0.900 1.000 22 1 1964 2011
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 1 5 0.900 moderate 11 5 1994 2017
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 8 5 0.550 1.000 6 1996 2011
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 16 15 0.500 4 1996 1998
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 26 10 0.500 1 1996 1996
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 24 3 0.320 1.000 6 1996 2010
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 11 7 0.310 1.000 1 1998 1998
CUI: C1257840
Disease: Aganglionosis, Rectosigmoid Colon
Aganglionosis, Rectosigmoid Colon
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 12 0.300 4 1996 1998
CUI: C0020649
Disease: Hypotension
Hypotension
phenotype Cardiovascular Diseases Finding 88 0.300 2 1992 1995
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Congenital Abnormality; Disease or Syndrome 9 6 0.300 1 1996 1996
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
phenotype Finding 1 1 0.300 1 1 1998 1998
CUI: C0428977
Disease: Bradycardia
Bradycardia
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 52 0.300 1 1992 1992
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.300 1 1991 1991
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 282 676 0.100 1 1 2012 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 335 923 0.100 1 1 2012 2012
High density lipoprotein measurement
phenotype Laboratory Procedure 323 867 0.100 1 1 2012 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 306 814 0.100 1 2 2012 2012
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital Abnormality 63 1 0.100 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 293 1 0.100 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 113 0.100 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding)
phenotype Finding 18 0.100 0
CUI: C0687713
Disease: Gastrointestinal pain
Gastrointestinal pain
phenotype Sign or Symptom 139 0.100 0
CUI: C0700590
Disease: Increased sweating
Increased sweating
phenotype Finding 96 0.100 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 221 5 0.100 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 160 0.100 0