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.
Autosomal Recessive Polycystic Kidney Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 54 2 0.510 None 1.000 1 2008 2008
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 225 3 0.310 None 1.000 1 2006 2014
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 848 41 0.020 None 1.000 1 2007 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 1958 182 0.020 None 1.000 1 1998 2005
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma
disease Neoplasms Neoplastic Process 76 9 0.020 None 1.000 1 2006 2006
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 452 26 0.020 None 1.000 1 2003 2019
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 214 12 0.020 None 1.000 1 2008 2018
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
group Infections; Nervous System Diseases Disease or Syndrome 152 35 0.010 None 1.000 1 2019 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2246 183 0.010 None 1.000 1 2017 2017
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
disease Neoplastic Process 166 3 0.010 None 1.000 1 2018 2018
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 558 1 0.010 None 1.000 1 2018 2018
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome
disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 312 42 0.010 None 1.000 1 2017 2017
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 566 78 0.010 None 1.000 1 2017 2017
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis
disease Disease or Syndrome 84 14 0.010 None 1.000 1 2013 2013
CUI: C1402315
Disease: Vascular lesions
Vascular lesions
disease Disease or Syndrome 111 9 0.010 None 1.000 1 2017 2017
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 104 7 0.010 None < 0.001 1 2019 2019
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: C0206701
Disease: Cystadenocarcinoma, Serous
Cystadenocarcinoma, Serous
disease Neoplasms Neoplastic Process 109 1 0.010 None 1.000 1 2018 2018
CUI: C0206702
Disease: Klatskin Tumor
Klatskin Tumor
disease Neoplasms Neoplastic Process 50 0.010 None 1.000 1 2017 2017
CUI: C0206769
Disease: Nevi and Melanomas
Nevi and Melanomas
group Neoplasms Neoplastic Process 29 3 0.010 None < 0.001 1 2019 2019
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma
disease Neoplastic Process 162 3 0.010 None 1.000 1 2018 2018
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
group Neoplasms Neoplastic Process 315 7 0.010 None 1.000 1 2011 2011
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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
disease Musculoskeletal Diseases Disease or Syndrome 577 273 0.010 None 1.000 1 2017 2017
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 378 60 0.010 None 1.000 1 2003 2003