PAX7, paired box 7, 5081

N. diseases: 78; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs742071
rs742071
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008924
Disease:
Cleft upper lip 		A 0.800 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
dbSNP: rs9439714
rs9439714
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008924
Disease:
Cleft upper lip 		0.800 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
dbSNP: rs742071
rs742071
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008924
Disease:
Cleft upper lip 		T 0.800 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734 2012
dbSNP: rs9439714
rs9439714
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008924
Disease:
Cleft upper lip 		0.800 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734 2012
dbSNP: rs742071
rs742071
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008924
Disease:
Cleft upper lip 		0.800 GeneticVariation GWASDB A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 20436469 2010
dbSNP: rs742071
rs742071
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008925
Disease:
Cleft Palate 		A 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
dbSNP: rs9439713
rs9439713
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008924
Disease:
Cleft upper lip 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
dbSNP: rs9439713
rs9439713
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C4021813
Disease:
Oral cleft 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
dbSNP: rs9439713
rs9439713
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008925
Disease:
Cleft Palate 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
dbSNP: rs9439714
rs9439714
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008925
Disease:
Cleft Palate 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
dbSNP: rs9439714
rs9439714
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C4021813
Disease:
Oral cleft 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
dbSNP: rs4920338
rs4920338
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008924
Disease:
Cleft upper lip 		0.700 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734 2012
dbSNP: rs4920524
rs4920524
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008924
Disease:
Cleft upper lip 		0.700 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734 2012
dbSNP: rs766325
rs766325
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0008924
Disease:
Cleft upper lip 		0.700 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734 2012
dbSNP: rs765162614
rs765162614
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE Genetic biomarkers for ALS disease in transgenic SOD1(G93A) mice. 22412900 2012
dbSNP: rs765162614
rs765162614
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE In the superoxide dismutase 1 (SOD1)-G93A mouse model of amyotrophic lateral sclerosis (ALS), skeletal muscle is a key target of mutant SOD1 toxicity. 21346327 2011
dbSNP: rs6659735
rs6659735
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0810364
Disease:
Cleft Lip with or without Cleft Palate 		0.010 GeneticVariation BEFREE The rs6659735 trinucleotide marker in PAX7 was significantly associated with all the US cleft groups combined (P = 0.007 in all clefts and P = 0.02 in CL(P)). 23463464 2013