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 Ie
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 7 0.730 None 1.000 7 7 2000 2016
Congenital Disorders of Glycosylation
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 102 38 0.330 strong 1.000 3 1 2000 2017
Congenital disorder of glycosylation type 1q
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 6 0.300 strong 1.000 1 2000 2000
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile
phenotype Finding 16 0.100 None 0
Hypoplasia involving bones of the upper limbs
phenotype Finding 9 3 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype Finding 129 21 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype Finding 45 6 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0
Partial thromboplastin time increased (finding)
phenotype Finding 18 1 0.100 None 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 6 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 110 13 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Anatomical Abnormality 30 3 0.100 None 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
disease Finding 127 8 0.100 None 0
CUI: C4025284
Disease: Reduced protein S activity
Reduced protein S activity
phenotype Finding 2 3 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.100 None 0
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype Finding 108 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0