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: 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: 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: 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
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.050 None 1.000 5 2011 2018
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: C1706559
Disease: Cornea verticillata
Cornea verticillata 		disease Disease or Syndrome 1 1 0.040 None 0.500 4 1 2005 2019
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.030 None 1.000 3 2018 2018
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.320 strong 1.000 3 2004 2014
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.420 strong 1.000 3 2004 2015
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy 		disease Nervous System Diseases Disease or Syndrome 35 8 0.030 None 1.000 3 2011 2017
CUI: C0002985
Disease: Angiokeratoma
Angiokeratoma 		disease Neoplasms Neoplastic Process 4 0.410 None 1.000 2 2010 2017
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.020 None 1.000 2 2017 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.020 None 1.000 2 2017 2018
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 52 46 0.020 None 1.000 2 1 2015 2020
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.020 None 1.000 2 2015 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.020 None 1.000 2 2018 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.120 None 1.000 2 1999 2007
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.020 None 1.000 2 2018 2018
CUI: C0085166
Disease: Bacterial Vaginosis
Bacterial Vaginosis 		disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 73 15 0.020 None 1.000 2 2017 2019
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: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.020 None 1.000 2 2015 2018