UPK3B, uroplakin 3B, 105375355

N. diseases: 82; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775645890
rs775645890
Entrez Id: 105375355
Gene Symbol: UPK3B
UPK3B
CUI: C0949664
Disease:
Tauopathies 		0.010 GeneticVariation BEFREE Here, to address the role of p25/Cdk5 in tauopathy, we generated double-transgenic mice by crossing mice overexpressing mutant human tau (P301S) with Δ<i>p35KI</i> mice. 28912154 2017
dbSNP: rs779612015
rs779612015
Entrez Id: 105375355
Gene Symbol: UPK3B
UPK3B
CUI: C0949664
Disease:
Tauopathies 		0.010 GeneticVariation BEFREE Here, to address the role of p25/Cdk5 in tauopathy, we generated double-transgenic mice by crossing mice overexpressing mutant human tau (P301S) with Δ<i>p35KI</i> mice. 28912154 2017
dbSNP: rs1430937516
rs1430937516
Entrez Id: 105375355
Gene Symbol: UPK3B
UPK3B
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 GeneticVariation BEFREE G12D K-Ras increased cleavage of p35 to p25, a stable and greater activator of CDK5, thus implicating a role for CDK5 in early progression of PDAC. 21825040 2011