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.
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
disease Disease or Syndrome 2 4 0.700 None 1.000 3 4 2012 2015
CUI: C0342704
Disease: Deficiency of Cobalamin G
Deficiency of Cobalamin G
disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0041782
Disease: Deficiency anemias
Deficiency anemias
group Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin
phenotype Finding 7 0.100 None 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia
phenotype Finding 11 1 0.100 None 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture
phenotype Nervous System Diseases Finding 13 7 0.100 None 0
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.300 None 1.000 1 2012 2012
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.100 None 0
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2005 2005
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 39 27 0.100 None 0
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 35 0.100 None 0
CUI: C0231835
Disease: Tachypnea
Tachypnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.300 None 1.000 1 2012 2012
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 127 21 0.010 None 1.000 1 2016 2016
CUI: C0023380
Disease: Lethargy
Lethargy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 160 6 0.100 None 0
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation
phenotype Pathological Conditions, Signs and Symptoms Finding 166 0.300 None 1.000 1 2012 2012
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.020 None 1.000 2 2005 2011
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2012 2012