AQP1, aquaporin 1 (Colton blood group), 358

N. diseases: 226; N. variants: 5
Source: BEFREE ×
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: C0555206
Disease: Chiari malformation type II
Chiari malformation type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 5 0.010 None 1.000 1 2019 2019
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 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: C0086541
Disease: Urban cutaneous leishmaniasis
Urban cutaneous leishmaniasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.010 None < 0.001 1 2018 2018
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 11 0.010 None 1.000 1 2019 2019
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: 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: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 14 0.010 None 1.000 1 2019 2019
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: 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 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 21 0.020 None 1.000 2 2012 2014
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 22 13 0.010 None 1.000 1 1994 1994
CUI: C0033845
Disease: Pseudotumor Cerebri
Pseudotumor Cerebri 		disease Nervous System Diseases Disease or Syndrome 22 0.010 None 1.000 1 2017 2017
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		disease Infections; Nervous System Diseases Disease or Syndrome 25 16 0.010 None 1.000 1 1 2019 2019
CUI: C0279084
Disease: Kaposi's sarcoma classical type
Kaposi's sarcoma classical type 		disease Neoplasms; Infections Neoplastic Process 26 3 0.010 None 1.000 1 2019 2019
CUI: C0032749
Disease: Post-kala-azar dermal leishmaniasis
Post-kala-azar dermal leishmaniasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 28 0.010 None 1.000 1 2010 2010
CUI: C0206769
Disease: Nevi and Melanomas
Nevi and Melanomas 		group Neoplasms Neoplastic Process 29 3 0.010 None < 0.001 1 2019 2019
CUI: C0862312
Disease: Epithelioid mesothelioma, malignant
Epithelioid mesothelioma, malignant 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2013 2013
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 33 3 0.010 None 1.000 1 2018 2018
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		disease Nervous System Diseases Congenital Abnormality 34 0.010 None 1.000 1 2019 2019