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: C0030554
Disease: Paresthesia
Paresthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C0231528
Disease: Myalgia
Myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.100 None 0
CUI: C0232726
Disease: Rectal tenesmus
Rectal tenesmus 		phenotype Digestive System Diseases; Nervous System Diseases Sign or Symptom 3 0.100 None 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		disease Disease or Syndrome 20 1 0.100 None 0
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.100 None 0
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		group Musculoskeletal Diseases Anatomical Abnormality 60 2 0.100 None 0
CUI: C0392178
Disease: Lipiduria
Lipiduria 		phenotype Finding 1 0.100 None 0
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		group Respiratory Tract Diseases Disease or Syndrome 104 4 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0
CUI: C0042571
Disease: Vertigo
Vertigo 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.100 None 0
CUI: C0033687
Disease: Proteinuria
Proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.100 None 0
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 79 5 0.300 strong 0