GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
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: C1706559
Disease: Cornea verticillata
Cornea verticillata
disease Disease or Syndrome 1 1 0.040 None 0.500 4 1 2005 2019
CUI: C0392178
Disease: Lipiduria
Lipiduria
phenotype Finding 1 0.100 None 0
CUI: C0149738
Disease: neurological pain
neurological pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.010 None 1.000 1 2010 2010
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 5 0.100 None 0 5
CUI: C0234221
Disease: Acroparesthesia
Acroparesthesia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2006 2006
Hypertrophic cardiomyopathy without obstruction
disease Cardiovascular Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 1 2017 2017
CUI: C0232726
Disease: Rectal tenesmus
Rectal tenesmus
phenotype Digestive System Diseases; Nervous System Diseases Sign or Symptom 3 0.100 None 0
CUI: C0002985
Disease: Angiokeratoma
Angiokeratoma
disease Neoplasms Neoplastic Process 4 0.410 None 1.000 2 2010 2017
CUI: C3889261
Disease: Other License Status
Other License Status
phenotype Finding 4 0.300 strong 0
CUI: C0553713
Disease: BREAST PAIN FEMALE
BREAST PAIN FEMALE
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom 6 3 0.010 None 1.000 1 2018 2018
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia
disease Cardiovascular Diseases Disease or Syndrome 7 14 0.010 None 1.000 1 2017 2017
CUI: C0344955
Disease: Ventricular septal hypertrophy
Ventricular septal hypertrophy
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 8 3 0.100 None 0
CUI: C0334102
Disease: Lymphangiomatosis
Lymphangiomatosis
disease Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 10 0.020 None 1.000 2 2018 2018
CUI: C0553692
Disease: Brain hemorrhage
Brain hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 10 0.300 strong 1.000 1 2004 2004
CUI: C0024902
Disease: Mastodynia
Mastodynia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 12 3 0.010 None 1.000 1 2018 2018
CUI: C0042267
Disease: Vaginitis
Vaginitis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C0006384
Disease: Bundle-Branch Block
Bundle-Branch Block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.100 None 0
Erythrocyte Mean Corpuscular Hemoglobin Test
phenotype Laboratory Procedure 13 0.300 moderate 1.000 1 2016 2016
Cardioembolism (high-risk/medium-risk)
disease Disease or Syndrome 16 4 0.010 None 1.000 1 1 2017 2017
CUI: C0042880
Disease: Vitamin K Deficiency
Vitamin K Deficiency
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 2017 2017
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency
disease Hemic and Lymphatic Diseases Disease or Syndrome 19 14 0.010 None 1.000 1 2006 2006
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis
disease Disease or Syndrome 20 1 0.100 None 0
CUI: C0033117
Disease: Priapism
Priapism
disease Male Urogenital Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2018 2018
CUI: C2609253
Disease: Macrovascular disease
Macrovascular disease
disease Disease or Syndrome 23 1 0.010 None 1.000 1 2007 2007
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 23 0.100 None 0