PAK1, p21 (RAC1) activated kinase 1, 5058

N. diseases: 221; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565583382
rs1565583382
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C4748428
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
C 0.700 GeneticVariation CLINVAR Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. 30290153 2018
dbSNP: rs1565638316
rs1565638316
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C4748428
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
C 0.700 GeneticVariation CLINVAR Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. 30290153 2018
dbSNP: rs146103351
rs146103351
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C3548479
Disease:
response to bronchodilator
A 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs1565583382
rs1565583382
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C4748428
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
C 0.700 CausalMutation CLINVAR
dbSNP: rs1565638316
rs1565638316
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C4748428
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
C 0.700 CausalMutation CLINVAR
dbSNP: rs11237200
rs11237200
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Moreover, the TG haplotype constructed by rs2844337 and rs11237200 polymorphisms remained significantly associated with SCZ risk following adjustment for gender and age and applying a Bonferroni correction in the Chinese Han population (P<sub>adj</sub>=0.003, P<sub>BC</sub>=0.009). 28450949 2017
dbSNP: rs2844337
rs2844337
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Moreover, the TG haplotype constructed by rs2844337 and rs11237200 polymorphisms remained significantly associated with SCZ risk following adjustment for gender and age and applying a Bonferroni correction in the Chinese Han population (P<sub>adj</sub>=0.003, P<sub>BC</sub>=0.009). 28450949 2017
dbSNP: rs2154754
rs2154754
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE After multiple comparisons, rs2154754 was still significantly associated with the lung cancer risk (P < 0.0125 for Bonferroni correction). 26377044 2015
dbSNP: rs2154754
rs2154754
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE After multiple comparisons, rs2154754 was still significantly associated with the lung cancer risk (P < 0.0125 for Bonferroni correction). 26377044 2015
dbSNP: rs2154754
rs2154754
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE After multiple comparisons, rs2154754 was still significantly associated with the lung cancer risk (P < 0.0125 for Bonferroni correction). 26377044 2015
dbSNP: rs2844337
rs2844337
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We screened four potentially functional polymorphisms (rs2154754, rs3015993, rs7109645, and rs2844337) in PAK1 gene and evaluated the association between the genetic variants and lung cancer risk in a case-control study including 1341 lung cancer cases and 1982 cancer-free controls in a Chinese population. 26377044 2015
dbSNP: rs2844337
rs2844337
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We screened four potentially functional polymorphisms (rs2154754, rs3015993, rs7109645, and rs2844337) in PAK1 gene and evaluated the association between the genetic variants and lung cancer risk in a case-control study including 1341 lung cancer cases and 1982 cancer-free controls in a Chinese population. 26377044 2015
dbSNP: rs2844337
rs2844337
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We screened four potentially functional polymorphisms (rs2154754, rs3015993, rs7109645, and rs2844337) in PAK1 gene and evaluated the association between the genetic variants and lung cancer risk in a case-control study including 1341 lung cancer cases and 1982 cancer-free controls in a Chinese population. 26377044 2015
dbSNP: rs3015993
rs3015993
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We found that variant allele of rs2154754 was significantly associated with a decreased risk of lung cancer (OR = 0.85, 95% CI: 0.77-0.95, P = 0.004), meanwhile the result of rs3015993 was marginal (OR = 0.90, 95%CI: 0.81-1.00, P = 0.044). 26377044 2015
dbSNP: rs3015993
rs3015993
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We found that variant allele of rs2154754 was significantly associated with a decreased risk of lung cancer (OR = 0.85, 95% CI: 0.77-0.95, P = 0.004), meanwhile the result of rs3015993 was marginal (OR = 0.90, 95%CI: 0.81-1.00, P = 0.044). 26377044 2015
dbSNP: rs3015993
rs3015993
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We found that variant allele of rs2154754 was significantly associated with a decreased risk of lung cancer (OR = 0.85, 95% CI: 0.77-0.95, P = 0.004), meanwhile the result of rs3015993 was marginal (OR = 0.90, 95%CI: 0.81-1.00, P = 0.044). 26377044 2015
dbSNP: rs7109645
rs7109645
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We screened four potentially functional polymorphisms (rs2154754, rs3015993, rs7109645, and rs2844337) in PAK1 gene and evaluated the association between the genetic variants and lung cancer risk in a case-control study including 1341 lung cancer cases and 1982 cancer-free controls in a Chinese population. 26377044 2015
dbSNP: rs7109645
rs7109645
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We screened four potentially functional polymorphisms (rs2154754, rs3015993, rs7109645, and rs2844337) in PAK1 gene and evaluated the association between the genetic variants and lung cancer risk in a case-control study including 1341 lung cancer cases and 1982 cancer-free controls in a Chinese population. 26377044 2015
dbSNP: rs7109645
rs7109645
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We screened four potentially functional polymorphisms (rs2154754, rs3015993, rs7109645, and rs2844337) in PAK1 gene and evaluated the association between the genetic variants and lung cancer risk in a case-control study including 1341 lung cancer cases and 1982 cancer-free controls in a Chinese population. 26377044 2015