CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13
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: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 37 18 0.020 None 0.500 2 2009 2010
CUI: C1850496
Disease: Neuronal loss in central nervous system
Neuronal loss in central nervous system 		phenotype Finding 37 0.100 None 0
CUI: C0221106
Disease: Alkalemia
Alkalemia 		disease Disease or Syndrome 38 0.010 None 1.000 1 2019 2019
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 42 2 0.010 None 1.000 1 2004 2004
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 43 1 0.010 None 1.000 1 1993 1993
CUI: C0243066
Disease: Atresia
Atresia 		disease Congenital Abnormality 44 1 0.010 None 1.000 1 2019 2019
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding 45 1 0.100 None 0
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 74 0.300 None 1.000 21 1 1995 2020
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 52 73 0.210 None 1.000 6 1995 2007
CUI: C1258085
Disease: Barrett Epithelium
Barrett Epithelium 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 52 0.010 None 1.000 1 2008 2008
CUI: C0221232
Disease: Welts
Welts 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Sign or Symptom 53 0.010 None 1.000 1 2013 2013
CUI: C3160889
Disease: Node-negative breast cancer
Node-negative breast cancer 		disease Neoplastic Process 54 2 0.020 None 1.000 2 2002 2003
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 54 42 0.010 None 1.000 1 2008 2008
CUI: C0234233
Disease: Sore to touch
Sore to touch 		phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom 56 8 0.010 None 1.000 1 2019 2019
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 57 23 0.020 None 1.000 2 2009 2010
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 61 3 0.010 None 1.000 1 1993 1993
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		group Nervous System Diseases Disease or Syndrome 66 4 0.010 None 1.000 1 1 2013 2013
CUI: C2986682
Disease: Locally Recurrent Malignant Neoplasm
Locally Recurrent Malignant Neoplasm 		disease Neoplastic Process 68 1 0.010 None 1.000 1 1999 1999
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 73 1 0.010 None 1.000 1 2009 2009
CUI: C0265101
Disease: Carotid artery occlusion
Carotid artery occlusion 		phenotype Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 74 1 0.010 None 1.000 1 2017 2017
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.010 None 1.000 1 2014 2014
CUI: C4255010
Disease: Non-ST Elevated Myocardial Infarction
Non-ST Elevated Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 85 2 0.010 None 1.000 1 2017 2017
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		disease Eye Diseases Disease or Syndrome 87 55 0.010 None 1.000 1 2019 2019
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
Adult Anaplastic Astrocytoma 		disease Neoplasms Neoplastic Process 90 8 0.010 None 1.000 1 2005 2005
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
Grade III Childhood Astrocytoma 		disease Neoplasms Neoplastic Process 90 8 0.010 None 1.000 1 2005 2005