SORL1, sortilin related receptor 1, 6653

N. diseases: 103; N. variants: 29
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: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.080 None 1.000 8 2009 2019
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.340 None 1.000 5 2006 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.040 None 1.000 4 2008 2016
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.030 None 1.000 3 2000 2015
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.030 None 1.000 3 2000 2015
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.020 None 1.000 2 2009 2015
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.020 None 1.000 2 2007 2011
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.020 None 1.000 2 2015 2016
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.020 None 1.000 2 2007 2011
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.020 None 1.000 2 2015 2017
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.310 None 1.000 2 2016 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2016 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 2012 2012
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 157 1 0.300 None 1.000 1 2018 2018
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.010 None 1.000 1 2019 2019
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 413 0.300 None 1.000 1 2016 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2015 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2018 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2000 2000
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 193 0.300 None 1.000 1 2015 2015
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2016 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.010 None 1.000 1 2016 2016
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 156 0.300 None 1.000 1 2018 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2000 2000
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018