Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		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: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		0.100 CausalMutation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		0.100 CausalMutation 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: 54551
Gene Symbol: MAGEL2
MAGEL2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		0.100 CausalMutation phenotype CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		0.100 Biomarker phenotype HPO
Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB 		0.100 Biomarker phenotype HPO
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.100 Biomarker phenotype HPO
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2 		0.100 Biomarker phenotype HPO
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		0.100 Biomarker phenotype HPO
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		0.100 Biomarker phenotype HPO
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		0.100 Biomarker phenotype HPO
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		0.100 Biomarker phenotype HPO