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: 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
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: 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: 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 		C 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 		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 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 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 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 		T 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 		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: 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: rs104893655
rs104893655
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1869118
Disease:
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104893660
rs104893660
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1869118
Disease:
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		C 0.700 CausalMutation CLINVAR
dbSNP: rs104893660
rs104893660
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1869118
Disease:
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs121917719
rs121917719
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C1869118
Disease:
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		A 0.700 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: rs2019137
rs2019137
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0200635
Disease:
Lymphocyte Count measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016