Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. 27912044 2016
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
0.600 GeneticVariation disease UNIPROT Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. 27912044 2016
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. 27912044 2016
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
0.600 CausalMutation disease CLINVAR