Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 GeneticVariation disease CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
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: 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: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 57531
Gene Symbol: HACE1
HACE1 		0.100 Biomarker disease HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		0.100 Biomarker disease HPO
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A 		0.100 Biomarker disease HPO
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		0.100 Biomarker disease HPO
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		0.100 Biomarker disease HPO
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11 		0.100 Biomarker disease HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 10466
Gene Symbol: COG5
COG5 		0.100 Biomarker disease HPO
Entrez Id: 200205
Gene Symbol: IBA57
IBA57 		0.100 Biomarker disease HPO
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		0.100 Biomarker disease HPO
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 Biomarker disease HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		0.100 CausalMutation disease CLINVAR
Entrez Id: 9373
Gene Symbol: PLAA
PLAA 		0.100 Biomarker disease HPO
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 CausalMutation disease CLINVAR