Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.100 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.100 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.100 GeneticVariation CLINVAR First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087

1998
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.100 SusceptibilityMutation CLINVAR