RBP4, retinol binding protein 4, 5950

N. diseases: 217; N. variants: 15
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: C0271271
Disease: Xerotic keratitis
Xerotic keratitis
disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 1 1999 1999
CUI: C0341702
Disease: Acquired Fanconi syndrome
Acquired Fanconi syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
disease Disease or Syndrome 2 3 0.700 strong 1.000 4 3 1999 2017
CUI: C0152455
Disease: Keratomalacia
Keratomalacia
disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 1 1999 1999
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
disease Disease or Syndrome 2 2 0.600 None 1.000 1 2 2015 2015
CUI: C0406481
Disease: Comedonal acne
Comedonal acne
disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.100 None 0
CUI: C3553016
Disease: Peripheral retinal atrophy
Peripheral retinal atrophy
disease Disease or Syndrome 2 0.100 None 0
CUI: C0856901
Disease: Retinol Deficiency
Retinol Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 3 2 0.310 None 1.000 2 2 1999 2005
CUI: C0162279
Disease: Choroidal detachment
Choroidal detachment
disease Eye Diseases Acquired Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C0206247
Disease: Amyloid Neuropathies
Amyloid Neuropathies
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 2005 2005
CUI: C4531196
Disease: Transthyretin cardiac amyloidosis
Transthyretin cardiac amyloidosis
disease Disease or Syndrome 3 2 0.010 None 1.000 1 1 2017 2017
CUI: C0021296
Disease: Infant, Small for Gestational Age
Infant, Small for Gestational Age
phenotype Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
Microphthalmia associated with colobomatous cyst
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2015 2015
CUI: C0856151
Disease: Fat redistribution
Fat redistribution
phenotype Disease or Syndrome 12 0.010 None 1.000 1 2015 2015
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 15 16 0.010 None 1.000 1 2016 2016
CUI: C2316786
Disease: Chronic kidney disease stage 2
Chronic kidney disease stage 2
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2018 2018
CUI: C4022459
Disease: Decreased adipose tissue
Decreased adipose tissue
phenotype Sign or Symptom 17 0.010 None 1.000 1 2018 2018
CUI: C0085399
Disease: Ehrlichiosis
Ehrlichiosis
disease Infections Disease or Syndrome 21 0.010 None 1.000 1 2017 2017
CUI: C0878681
Disease: Dent's disease
Dent's disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 12 0.010 None 1.000 1 2012 2012
CUI: C0282548
Disease: Leukostasis
Leukostasis
disease Hemic and Lymphatic Diseases Disease or Syndrome 25 0.010 None 1.000 1 2017 2017
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 29 13 0.010 None 1.000 1 2014 2014
CUI: C0235272
Disease: Retinal damage
Retinal damage
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Wounds and Injuries Disease or Syndrome 32 1 0.010 None 1.000 1 2015 2015
Night blindness, congenital stationary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.300 strong 0
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 33 19 0.010 None 1.000 1 2004 2004
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 40 10 0.010 None 1.000 1 2019 2019