Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 GeneticVariation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.100 CausalMutation phenotype CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 22907
Gene Symbol: DHX30
DHX30 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		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
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 26750
Gene Symbol: RPS6KC1
RPS6KC1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.100 GeneticVariation phenotype CLINVAR