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.
Congenital disorder of glycosylation type 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 5 0.920 1.000 6 5 1996 2012
Congenital Disorders of Glycosylation
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 121 13 0.310 strong 1.000 2 1996 2009
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 137 0.300 1 2009 2009
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal
disease Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0.300 1 2009 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 0
Congenital disorder of glycosylation type 2D
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.200 1 2002 2002
Congenital disorder of glycosylation, type 2C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 4 0.200 1 2002 2002
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
disease Disease or Syndrome 2 7 0.200 1 2002 2002
Carbohydrate deficient glycoprotein syndrome type 2k
disease Disease or Syndrome 2 4 0.200 1 2002 2002
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
disease Disease or Syndrome 2 6 0.200 1 2002 2002
Congenital Disorder Of Glycosylation, Type IIH
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.200 1 2002 2002
Congenital Disorder Of Glycosylation, Type IIF
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.200 1 2002 2002
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
disease Disease or Syndrome 2 4 0.200 1 2002 2002
Congenital disorder of glycosylation, type 2G
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.200 1 2002 2002
COG5 congenital disorder of glycosylation
disease Disease or Syndrome 2 2 0.200 1 2002 2002
Congenital Disorder Of Glycosylation, Type IIB
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 4 0.200 1 2002 2002
Congenital disorder of glycosylation type 2E
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.200 1 2002 2002
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 86 21 0.100 1 1 2015 2015
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 1 1 2015 2015
CUI: C1866234
Disease: Protruding lower lip
Protruding lower lip
phenotype Finding 86 0.100 0
CUI: C1850628
Disease: Prominent columella
Prominent columella
phenotype Finding 7 0.100 0
CUI: C1853246
Disease: Everted lower lip vermilion
Everted lower lip vermilion
phenotype Finding 86 0.100 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype Finding 73 2 0.100 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
phenotype Finding 56 4 0.100 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype Finding 84 0.100 0