AQP1, aquaporin 1 (Colton blood group), 358

N. diseases: 268; N. variants: 8
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: C1862554
Disease: COLTON-NULL PHENOTYPE
COLTON-NULL PHENOTYPE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0013608
Disease: Edema, Cardiac
Edema, Cardiac 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 3 0.300 None 1.000 1 2013 2013
CUI: C0009439
Disease: Choledochal Cyst, Type I
Choledochal Cyst, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257796
Disease: Choledochal Cyst, Type II
Choledochal Cyst, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257797
Disease: Choledochal Cyst, Type III
Choledochal Cyst, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257798
Disease: Choledochal Cyst, Type IV
Choledochal Cyst, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257799
Disease: Choledochal Cyst, Type V
Choledochal Cyst, Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C0036981
Disease: Endotoxic shock
Endotoxic shock 		phenotype Pathological Conditions, Signs and Symptoms; Infections Pathologic Function 6 0.300 None 1.000 1 2013 2013
CUI: C0555206
Disease: Chiari malformation type II
Chiari malformation type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 7 0.010 None 1.000 1 2019 2019
CUI: C0728936
Disease: Disorder of circulatory system
Disorder of circulatory system 		group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C3714618
Disease: Primary Hyperthyroidism
Primary Hyperthyroidism 		disease Endocrine System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2003 2003
CUI: C0028643
Disease: Numbness
Numbness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 12 2 0.010 None 1.000 1 2018 2018
CUI: C0278650
Disease: Childhood Supratentorial Ependymoma
Childhood Supratentorial Ependymoma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2011 2011
CUI: C2721670
Disease: Ultrafiltration failure
Ultrafiltration failure 		disease Digestive System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0086541
Disease: Urban cutaneous leishmaniasis
Urban cutaneous leishmaniasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 13 0.010 None < 0.001 1 2018 2018
CUI: C0238029
Disease: Ependymoma of brain
Ependymoma of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 13 0.010 None 1.000 1 2013 2013
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype Molecular Function 14 0.300 moderate 1.000 1 2018 2018
CUI: C0266316
Disease: Congenital hydronephrosis
Congenital hydronephrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 15 0.010 None 1.000 1 2017 2017
CUI: C0262417
Disease: Acute on chronic pancreatitis
Acute on chronic pancreatitis 		disease Digestive System Diseases Disease or Syndrome 18 7 0.010 None 1.000 1 2018 2018
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2019 2019
CUI: C1377913
Disease: Pleural Mesothelioma
Pleural Mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 19 0.010 None 1.000 1 2013 2013
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 150 0.010 None 1.000 1 2008 2008
CUI: C0007860
Disease: Uterine Cervicitis
Uterine Cervicitis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 22 0.020 None 1.000 2 2012 2014
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 23 0.010 None 1.000 1 2019 2019
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 24 13 0.010 None 1.000 1 1994 1994