PITX1, paired like homeodomain 1, 5307

N. diseases: 109; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs31211
rs31211
Entrez Id: 5307
Gene Symbol: PITX1
PITX1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs121909109
rs121909109
Entrez Id: 5307;100996485
Gene Symbol: PITX1;C5orf66
PITX1;C5orf66
CUI: C0009081
Disease:
Congenital clubfoot 		0.810 GeneticVariation BEFREE Because the E130K mutation reduced PITX1 activity, we hypothesized that PITX1 haploinsufficiency could also cause clubfoot. 21775501 2011
dbSNP: rs121909109
rs121909109
Entrez Id: 5307;100996485
Gene Symbol: PITX1;C5orf66
PITX1;C5orf66
CUI: C0009081
Disease:
Congenital clubfoot 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121909109
rs121909109
Entrez Id: 5307;100996485
Gene Symbol: PITX1;C5orf66
PITX1;C5orf66
CUI: C0009081
Disease:
Congenital clubfoot 		0.810 GeneticVariation UNIPROT Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. 18950742 2008
dbSNP: rs121909109
rs121909109
Entrez Id: 5307;100996485
Gene Symbol: PITX1;C5orf66
PITX1;C5orf66
CUI: C0009081
Disease:
Congenital clubfoot 		0.810 GeneticVariation UNIPROT Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. 22258522 2012
dbSNP: rs730882191
rs730882191
Entrez Id: 5307
Gene Symbol: PITX1
PITX1
CUI: C0009081
Disease:
Congenital clubfoot 		G 0.700 CausalMutation CLINVAR
dbSNP: rs479632
rs479632
Entrez Id: 5307
Gene Symbol: PITX1
PITX1
CUI: C0029408
Disease:
Degenerative polyarthritis 		0.010 GeneticVariation BEFREE The present study suggests that the PITX1 polymorphism (rs479632) is not a risk factor for knee OA susceptibility in the Chinese Han population. 20054692 2011
dbSNP: rs3805663
rs3805663
Entrez Id: 5307
Gene Symbol: PITX1
PITX1
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		T 0.700 GeneticVariation GWASDB Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
dbSNP: rs3805663
rs3805663
Entrez Id: 5307
Gene Symbol: PITX1
PITX1
CUI: C0039590
Disease:
Testicular Neoplasms 		T 0.700 GeneticVariation GWASCAT Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013