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
C 0.800 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
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: 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 Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. 11232006 2001
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 A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. 11502839 2001
dbSNP: rs104893657
rs104893657
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 Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. 11232006 2001
dbSNP: rs104893657
rs104893657
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 A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. 11502839 2001
dbSNP: rs104893658
rs104893658
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 A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. 11502839 2001
dbSNP: rs104893658
rs104893658
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 Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. 11232006 2001
dbSNP: rs104893659
rs104893659
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 A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. 11502839 2001
dbSNP: rs104893659
rs104893659
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 Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. 11232006 2001
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: rs104893657
rs104893657
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: rs104893658
rs104893658
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: rs104893659
rs104893659
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
dbSNP: rs104893657
rs104893657
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1869118
Disease:
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
T 0.800 CausalMutation CLINVAR
dbSNP: rs104893658
rs104893658
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1869118
Disease:
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
C 0.800 CausalMutation CLINVAR
dbSNP: rs104893659
rs104893659
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1869118
Disease:
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
T 0.800 CausalMutation CLINVAR
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: 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: rs6707386
rs6707386
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0202239
Disease:
Uric acid measurement (procedure)
A 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
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: 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: 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