Gene "NPC1L1"
Found 15 records
Gene information
Gene symbol:
NPC1L1
See related:
Ensembl: ENSG00000015520, Gene ID: 29881
Additive variants :
Detected
Genetic interaction partners
No data
Modifier statisitcs
Record:
15 
Disorder:
1 
Vriant:
15 
Reference:
1 
Effect type:
Expressivity(15)  
Modifier effect:
Risk factor(15)  
Details：
  • Variant 1:
    NPC1L1:p.Ala1201Val
    Gene:
    NPC1L1
    Genomic location:
    dbSNP ID:
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 2:
    NPC1L1:c.887del(p.Ala296fs)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44579109-44579110
    dbSNP ID:
    rs751737534
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 3:
    NPC1L1:c.499C>T(p.Gln167*)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44579497
    dbSNP ID:
    rs376436832
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 4:
    NPC1L1:c.3973C>T(p.Arg1325*)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44553153
    dbSNP ID:
    rs764999826
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 5:
    NPC1L1:c.2901C>A(p.Cys967*)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44561363
    dbSNP ID:
    rs770450516
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 6:
    NPC1L1:c.2637+2T>G
    Gene:
    NPC1L1
    Genomic location:
    dbSNP ID:
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 7:
    NPC1L1:c.2407G>T(p.Glu803*)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44573032
    dbSNP ID:
    rs1322275100
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 8:
    NPC1L1:c.2211del(p.Arg738fs)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44573408-44573409
    dbSNP ID:
    rs763232516
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 9:
    NPC1L1:c.212del(p.Leu71fs)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44579784-44579785
    dbSNP ID:
    rs778702059
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 10:
    NPC1L1:c.1810C>T(p.Gln604*)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44575899
    dbSNP ID:
    rs141912074
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 11:
    NPC1L1:c.1801C>A(p.Arg601Arg)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44575908
    dbSNP ID:
    rs565991480
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 12:
    NPC1L1:c.1776G>A(p.Trp592*)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44575933
    dbSNP ID:
    rs774017720
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 13:
    NPC1L1:c.1681+1G>A
    Gene:
    NPC1L1
    Genomic location:
    dbSNP ID:
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 14:
    NPC1L1:c.1449C>T(p.Tyr483Tyr)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44578547
    dbSNP ID:
    rs373971479
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.
  • Variant 15:
    NPC1L1:c.1216C>T(p.Arg406*)
    Gene:
    NPC1L1
    Genomic location:
    chr7:44578780
    dbSNP ID:
    rs145297799
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.