Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.100 CausalMutation disease CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		0.100 CausalMutation disease CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4 		0.100 Biomarker disease HPO
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1 		0.100 Biomarker disease HPO
Entrez Id: 56244
Gene Symbol: BTNL2
BTNL2 		0.100 Biomarker disease HPO
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1 		0.020 GeneticVariation disease BEFREE We inquired about the possibility of a familial trend in juvenile parotitis and evaluated the role of SPINK1 mutations in juvenile parotitis. 16303695 2005
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1 		0.020 GeneticVariation disease BEFREE The SPINK1-N34S mutation is not associated with chronic parotitis. 15753612 2004
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		0.010 Biomarker disease LHGDN Parotid saliva of ICRP patients showed an increased protein concentration, altered mode of protein diffusion, a higher frequency of polypeptide bands of 43, 37, 33, 29, 26, 16, and 10 kD, higher asymmetry in the polypeptide profiles of both contralateral parotid saliva, and an increase in the frequency of MMP-2 and MMP-9. 17237723 2007
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		0.010 Biomarker disease LHGDN Parotid saliva of ICRP patients showed an increased protein concentration, altered mode of protein diffusion, a higher frequency of polypeptide bands of 43, 37, 33, 29, 26, 16, and 10 kD, higher asymmetry in the polypeptide profiles of both contralateral parotid saliva, and an increase in the frequency of MMP-2 and MMP-9. 17237723 2007