ALDOA, aldolase, fructose-bisphosphate A, 226

N. diseases: 61; N. variants: 4
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2017 2019
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 27 8 0.010 None 1.000 1 1987 1987
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.700 strong 1.000 7 3 1981 2016
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 63 16 0.300 strong 1.000 3 1981 2016
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease Digestive System Diseases Disease or Syndrome 55 3 0.100 None 0
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.100 None 0
CUI: C0023885
Disease: Liver Abscess
Liver Abscess 		disease Digestive System Diseases; Infections Disease or Syndrome 22 1 0.010 None 1.000 1 2005 2005
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 91 10 0.010 None 1.000 1 2018 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2019 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.020 None 1.000 2 2009 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.020 None 1.000 2 2009 2019
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		disease Eye Diseases Disease or Syndrome 47 8 0.010 None 1.000 1 2018 2018
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.010 None 1.000 1 2014 2014
CUI: C0085577
Disease: Normocytic anemia
Normocytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0235983
Disease: Normochromic anemia
Normochromic anemia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 9 0.100 None 0
CUI: C4025735
Disease: Nonspherocytic hemolytic anemia
Nonspherocytic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 13 3 0.100 None 0