Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		0.100 Biomarker disease HPO
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		0.100 Biomarker disease HPO
Entrez Id: 60529
Gene Symbol: ALX4
ALX4 		0.100 Biomarker disease HPO
Entrez Id: 10297
Gene Symbol: APC2
APC2 		0.100 Biomarker disease HPO
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		0.100 Biomarker disease HPO
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.100 Biomarker disease HPO
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2 		0.100 Biomarker disease HPO
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		0.100 Biomarker disease HPO
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 Biomarker disease HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 Biomarker disease HPO
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.100 Biomarker disease HPO
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.100 Biomarker disease HPO
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.100 Biomarker disease HPO
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57 		0.100 Biomarker disease HPO
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		0.100 Biomarker disease HPO
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.100 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.100 Biomarker disease HPO
Entrez Id: 10370
Gene Symbol: CITED2
CITED2 		0.100 Biomarker disease HPO
Entrez Id: 1272
Gene Symbol: CNTN1
CNTN1 		0.100 Biomarker disease HPO
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 Biomarker disease HPO
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		0.100 Biomarker disease HPO
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		0.100 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019