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: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 4 0.600 None 1.000 4 4 2004 2016
CUI: C1844909
Disease: Recurrent infections in infancy and early childhood
Recurrent infections in infancy and early childhood 		phenotype Finding 2 2 0.100 None 0 2
CUI: C1857485
Disease: Flat forehead
Flat forehead 		phenotype Finding 11 0.100 None 0
CUI: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome; Congenital Abnormality 12 0.010 None 1.000 1 2007 2007
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		phenotype Finding 12 9 0.100 None 0 2
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		phenotype Finding 15 10 0.100 None 0 2
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		phenotype Finding 27 4 0.100 None 0
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: C1446712
Disease: Overlapping fingers
Overlapping fingers 		disease Acquired Abnormality 27 2 0.100 None 0
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 36 16 0.100 None 0 2
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype Finding 36 13 0.100 None 0 2
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 0 2
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype Pathologic Function 42 1 0.100 None 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 43 9 0.100 None 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		disease Disease or Syndrome 58 20 0.100 None 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		phenotype Finding 59 5 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		phenotype Musculoskeletal Diseases Finding 74 5 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 92 27 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 102 38 0.040 None 1.000 4 2011 2017