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: 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
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 1998 1998
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell
disease Neoplasms Neoplastic Process 218 5 0.300 None 1.000 1 2002 2002
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal
disease Neoplasms; Animal Diseases Neoplastic Process 144 0.300 None 1.000 1 2002 2002
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis
phenotype Neoplasms Neoplastic Process 186 2 0.300 None 1.000 1 2002 2002
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
disease Neoplasms Neoplastic Process 232 3 0.300 None 1.000 1 2002 2002
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms
phenotype Neoplasms; Animal Diseases Neoplastic Process 147 0.300 None 1.000 1 2002 2002
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental
phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 218 0.300 None 1.000 1 2002 2002
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
disease Neoplasms Neoplastic Process 283 8 0.300 None 1.000 1 2002 2002
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.010 None 1.000 1 2003 2003
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.010 None 1.000 1 2003 2003
CUI: C3714618
Disease: Primary Hyperthyroidism
Primary Hyperthyroidism
disease Endocrine System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2003 2003
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
disease Endocrine System Diseases Disease or Syndrome 279 27 0.300 None 1.000 1 2003 2003
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 2004 2004
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.020 None 1.000 2 1998 2005
CUI: C2004493
Disease: Leukemia, B-Cell
Leukemia, B-Cell
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 239 2 0.010 None < 0.001 1 2005 2005
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.010 None < 0.001 1 2005 2005
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma
disease Neoplasms Neoplastic Process 79 9 0.020 None 1.000 2 2006 2006
Malignant neoplasm of salivary gland
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 91 0.300 None 1.000 1 2006 2006
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.010 None 1.000 1 2006 2006
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms
group Neoplasms; Stomatognathic Diseases Neoplastic Process 116 3 0.300 None 1.000 1 2006 2006
Meningioma, benign, no ICD-O subtype
disease Neoplasms; Nervous System Diseases Neoplastic Process 404 30 0.020 None 1.000 2 2006 2008
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.020 None 1.000 2 2006 2008
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