SORT1, sortilin 1, 6272

N. diseases: 111; N. variants: 8
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: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype Digestive System Diseases Finding 73 0.300 None 1.000 1 2018 2018
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.300 None 1.000 1 2018 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 3 2012 2012
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2017 2017
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 3 2012 2012
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 3 2012 2012
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 1 1 2017 2017
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2019 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2017 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 1997 1997
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.010 None < 0.001 1 2018 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2019 2019
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
disease Nervous System Diseases Disease or Syndrome 122 79 0.010 None 1.000 1 2016 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2017 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2018 2018
CUI: C0236663
Disease: Alcohol withdrawal syndrome
Alcohol withdrawal syndrome
disease Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 67 6 0.010 None 1.000 1 2018 2018
CUI: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 150 18 0.010 None 1.000 1 2019 2019
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
group Nutritional and Metabolic Diseases Disease or Syndrome 95 10 0.010 None 1.000 1 2017 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.010 None 1.000 1 2018 2018
CUI: C0155733
Disease: Atherosclerosis of aorta
Atherosclerosis of aorta
phenotype Cardiovascular Diseases Disease or Syndrome 37 1 0.010 None 1.000 1 2019 2019
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 266 1 0.010 None 1.000 1 2019 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2019 2019
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
group Neoplasms Neoplastic Process 491 20 0.010 None 1.000 1 2018 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2018 2018
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2020 2020