Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 112939
Gene Symbol: NACC1
NACC1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010