Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 537
Gene Symbol: ATP6AP1
ATP6AP1 		0.100 CausalMutation phenotype CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534 2010
Entrez Id: 84317
Gene Symbol: CCDC115
CCDC115 		0.100 Biomarker phenotype HPO
Entrez Id: 284439
Gene Symbol: SLC25A42
SLC25A42 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1 		0.100 Biomarker phenotype HPO
Entrez Id: 147007
Gene Symbol: TMEM199
TMEM199 		0.100 Biomarker phenotype HPO
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1356
Gene Symbol: CP
CP 		0.100 Biomarker phenotype HPO
Entrez Id: 1174
Gene Symbol: AP1S1
AP1S1 		0.100 Biomarker phenotype HPO
Entrez Id: 5230
Gene Symbol: PGK1
PGK1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 22796
Gene Symbol: COG2
COG2 		0.100 Biomarker phenotype HPO