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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0018564
Disease: Hand deformities
Hand deformities
group Musculoskeletal Diseases Anatomical Abnormality 60 2 0.100 None 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve
disease Anatomical Abnormality 50 2 0.100 None 0
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
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology
disease Anatomical Abnormality 33 1 0.100 None 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 41 3 0.010 None 1.000 1 2009 2009
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment
phenotype Diagnostic Procedure 84 0.100 None 0
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 108 206 1.000 definitive 0.992 530 200 1967 2020
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.100 None 1.000 59 3 1996 2020
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.200 None 1.000 37 7 1991 2019
CUI: C4732730
Disease: Blood spots
Blood spots
disease Disease or Syndrome 117 0.100 None 1.000 13 2006 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.400 strong 1.000 11 2 2004 2018
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.090 None 1.000 9 2 2011 2019
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.080 None 1.000 8 2 2011 2019
Hypertrophic obstructive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 233 90 0.080 None 1.000 8 2 1991 2018
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.170 None 1.000 7 2 2011 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.150 None 1.000 5 1 1996 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.050 None 1.000 5 2011 2018
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.050 None 1.000 5 2007 2019
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.040 None 1.000 4 1996 2008
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.330 strong 1.000 4 2004 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.440 None 0.750 4 3 2010 2018
CUI: C1706559
Disease: Cornea verticillata
Cornea verticillata
disease Disease or Syndrome 1 1 0.040 None 0.500 4 1 2005 2019
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 233 56 0.030 None 1.000 3 1 2005 2015