PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11123170
rs11123170
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		G 0.800 GeneticVariation GWASCAT Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. 22797727 2012
dbSNP: rs11123170
rs11123170
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		G 0.800 GeneticVariation GWASDB Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. 22797727 2012
dbSNP: rs11123170
rs11123170
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		C 0.800 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs7576384
rs7576384
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs13405033
rs13405033
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs58231626
rs58231626
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs67802835
rs67802835
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs58231626
rs58231626
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0005910
Disease:
Body Weight 		A 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs200817352
rs200817352
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0596263
Disease:
Carcinogenesis 		0.010 GeneticVariation BEFREE In these experiments, we observed that the p.A248G variant promoted cell proliferation and migration, suggesting that it may be involved in thyroid tumorigenesis. 25381600 2015
dbSNP: rs1110839
rs1110839
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE Rs4848320 and rs1110839 polymorphisms may be associated with lung cancer susceptibility. 29997452 2018
dbSNP: rs4848320
rs4848320
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE Interaction of rs4848320 risk genotypes with smoking exposure may strengthen the risk effect on lung cancer. 29997452 2018
dbSNP: rs201436651
rs201436651
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0007138
Disease:
Carcinoma, Transitional Cell 		0.010 GeneticVariation BEFREE Thrombomodulin, uroplakin III, p63, and S100P are useful markers for urothelial carcinoma. 21204715 2011
dbSNP: rs201093713
rs201093713
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0007789
Disease:
Cerebral Palsy 		0.010 GeneticVariation BEFREE We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). 28954305 2018
dbSNP: rs1110839
rs1110839
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C4048328
Disease:
cervical cancer 		0.010 GeneticVariation BEFREE Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer. 27225188 2016
dbSNP: rs4848320
rs4848320
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C4048328
Disease:
cervical cancer 		0.010 GeneticVariation BEFREE Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer. 27225188 2016
dbSNP: rs1110839
rs1110839
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0302592
Disease:
Cervix carcinoma 		0.010 GeneticVariation BEFREE Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer. 27225188 2016
dbSNP: rs4848320
rs4848320
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0302592
Disease:
Cervix carcinoma 		0.010 GeneticVariation BEFREE Logistic regression analyses revealed that variant allele T of rs4848320 (recessive model: adjusted OR = 0.61, 95 % CI = 0.38-0.97, P = 0.027) and G of rs1110839 (additive model: adjusted OR = 0.88, 95 % CI = 0.79-0.99, P = 0.032) were associated with decreased risk of cervical cancer. 27225188 2016
dbSNP: rs104893656
rs104893656
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.010 GeneticVariation BEFREE A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. 11502839 2001
dbSNP: rs1173174494
rs1173174494
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.010 GeneticVariation BEFREE A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. 27207603 2016
dbSNP: rs368201100
rs368201100
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.010 GeneticVariation BEFREE Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. 17980011 2008
dbSNP: rs775083174
rs775083174
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.010 GeneticVariation BEFREE PAX8 mutations in congenital hypothyroidism due to dysgenetic or orthotopic thyroid glands are rare.PAX8-T225M is probably a rare variant. 17437516 2007
dbSNP: rs104893656
rs104893656
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0342153
Disease:
Congenital thyroid hypoplasia 		0.010 GeneticVariation BEFREE A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. 11502839 2001
dbSNP: rs2863244
rs2863244
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0424574
Disease:
Duration of sleep 		G 0.700 GeneticVariation GWASCAT Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways. 30804565 2019
dbSNP: rs104893656
rs104893656
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1869118
Disease:
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		0.800 GeneticVariation UNIPROT PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. 9590296 1998
dbSNP: rs104893656
rs104893656
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1869118
Disease:
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		G 0.800 CausalMutation CLINVAR