PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906667
rs387906667
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0265242
Disease:
Otocephaly 		0.800 GeneticVariation UNIPROT PRRX1 is mutated in a fetus with agnathia-otocephaly. 21294718 2011
dbSNP: rs387906667
rs387906667
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0265242
Disease:
Otocephaly 		C 0.800 CausalMutation CLINVAR
dbSNP: rs2213751
rs2213751
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs4656220
rs4656220
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs76839558
rs76839558
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12142379
rs12142379
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0004238
Disease:
Atrial Fibrillation 		C 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs503706
rs503706
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0004238
Disease:
Atrial Fibrillation 		T 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs6693796
rs6693796
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C3894553
Disease:
response to simvastatin 		0.700 GeneticVariation GWASCAT Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. 28736931 2018
dbSNP: rs6693796
rs6693796
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASCAT Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. 28736931 2018
dbSNP: rs520525
rs520525
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.700 GeneticVariation GWASCAT Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 28416818 2017
dbSNP: rs659580
rs659580
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0020538
Disease:
Hypertensive disease 		T 0.700 GeneticVariation GWASCAT Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. 22566498 2012
dbSNP: rs398122375
rs398122375
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0265242
Disease:
Otocephaly 		G 0.700 CausalMutation CLINVAR
dbSNP: rs398122375
rs398122375
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0265242
Disease:
Otocephaly 		GAAAA 0.700 CausalMutation CLINVAR
dbSNP: rs593479
rs593479
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE Six single-nucleotide polymorphisms-rs593479 (1q24 in PRRX1), rs1906617 (4q25 near PITX2), rs11773845 (7q31 in CAV1), rs6584555 (10q25 in NEURL), rs6490029 (12q24 in CUX2), and rs12932445 (16q22 in ZFHX3) (P < 1.9 × 10<sup>-5</sup>)-were confirmed as being associated with AF. 28129963 2017