PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265242
Disease: Otocephaly
Otocephaly 		0.620 GeneticVariation disease BEFREE Agnathia-otocephaly is a rare craniofacial malformation complex that is caused by de novo heterozygous and biallelic mutations in PRRX1 in two unrelated babies, respectively. 23444262 2013
CUI: C0265242
Disease: Otocephaly
Otocephaly 		0.620 Biomarker disease BEFREE In this study we report a sporadic case of agnathia-otocephaly complex with associated features of maldevelopment and examine the roles of OTX2 and PRRX1. 22198066 2012
CUI: C0265242
Disease: Otocephaly
Otocephaly 		0.620 GermlineCausalMutation disease ORPHANET PRRX1 is mutated in a fetus with agnathia-otocephaly. 21294718 2011
CUI: C0265242
Disease: Otocephaly
Otocephaly 		0.620 GeneticVariation disease UNIPROT PRRX1 is mutated in a fetus with agnathia-otocephaly. 21294718 2011
CUI: C0265242
Disease: Otocephaly
Otocephaly 		0.620 CausalMutation disease CLINVAR
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		0.500 Biomarker disease CTD_human Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 23444262 2013
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		0.500 GermlineCausalMutation disease ORPHANET PRRX1 is mutated in a fetus with agnathia-otocephaly. 21294718 2011
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 GeneticVariation disease GWASCAT Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 28416818 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 GeneticVariation disease BEFREE Genome-wide association studies (GWAS) have identified common variants in nine genomic regions associated with AF (KCNN3, PRRX1, PITX2, WNT8A, CAV1, C9orf3, SYNE2, HCN4 and ZFHX3 genes); however, the genetic variability of these risk variants does not explain the entire genetic susceptibility to AF. 25391453 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 GeneticVariation disease BEFREE In the rare variant joint analysis, damaging variants within the PRRX1 region showed significant association with AF after Bonferroni correction (P = .01). 24239840 2014
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 Biomarker disease CTD_human Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012
CUI: C0035353
Disease: Congenital retrognathism
Congenital retrognathism 		0.310 Biomarker disease CTD_human We studied the PRRX1 gene in a non-consanguineous Indonesian female infant who was diagnosed prenatally with severe retrognathia (bilateral Pruzansky type III). 23444262 2013
CUI: C0035353
Disease: Congenital retrognathism
Congenital retrognathism 		0.310 GeneticVariation disease BEFREE We studied the PRRX1 gene in a non-consanguineous Indonesian female infant who was diagnosed prenatally with severe retrognathia (bilateral Pruzansky type III). 23444262 2013
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.310 Biomarker disease CTD_human We studied the PRRX1 gene in a non-consanguineous Indonesian female infant who was diagnosed prenatally with severe retrognathia (bilateral Pruzansky type III). 23444262 2013
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.310 GeneticVariation disease BEFREE We studied the PRRX1 gene in a non-consanguineous Indonesian female infant who was diagnosed prenatally with severe retrognathia (bilateral Pruzansky type III). 23444262 2013
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases 		0.300 Biomarker group CTD_human Paired Related Homeobox Protein 1 Regulates Quiescence in Human Oligodendrocyte Progenitors. 30566868 2018
CUI: C0011304
Disease: Demyelination
Demyelination 		0.300 Biomarker phenotype CTD_human In mouse brain, PRRX1 mRNA was detected in non-dividing OPCs and is upregulated in OPCs following demyelination. 30566868 2018
CUI: C2350037
Disease: Clinically Isolated Syndrome, CNS Demyelinating
Clinically Isolated Syndrome, CNS Demyelinating 		0.300 Biomarker disease CTD_human Paired Related Homeobox Protein 1 Regulates Quiescence in Human Oligodendrocyte Progenitors. 30566868 2018
CUI: C3494423
Disease: Maxillary Retroposition
Maxillary Retroposition 		0.300 Biomarker phenotype CTD_human Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 23444262 2013
CUI: C3494424
Disease: Maxillary Retrusion
Maxillary Retrusion 		0.300 Biomarker disease CTD_human Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 23444262 2013
CUI: C3494425
Disease: Mandibular Retroposition
Mandibular Retroposition 		0.300 Biomarker phenotype CTD_human Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 23444262 2013
CUI: C3494426
Disease: Mandibular Retrusion
Mandibular Retrusion 		0.300 Biomarker disease CTD_human Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 23444262 2013
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012