Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation phenotype CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
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: 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: 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: 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: 9343
Gene Symbol: EFTUD2
EFTUD2 		0.100 GeneticVariation phenotype CLINVAR
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
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		0.100 Biomarker phenotype HPO
Entrez Id: 4576
Gene Symbol: TRNT
TRNT 		0.100 Biomarker phenotype HPO
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1 		0.100 Biomarker phenotype HPO
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.100 Biomarker phenotype HPO
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: 673
Gene Symbol: BRAF
BRAF 		0.100 GeneticVariation phenotype CLINVAR