Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT 		0.510 GermlineCausalMutation disease ORPHANET Whole-exome sequencing of two children from a consanguineous family with pyridoxine-dependent epilepsy revealed a homozygous nonsense mutation in proline synthetase co-transcribed homolog (bacterial), PROSC, which encodes a PLP-binding protein of hitherto unknown function. 27912044 2016
CUI: C1291560
Disease: Deficiency of glutamate decarboxylase
Deficiency of glutamate decarboxylase 		0.300 GermlineCausalMutation disease ORPHANET Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. 27912044 2016
CUI: C4310632
Disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
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
CUI: C4310632
Disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
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
CUI: C4310632
Disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
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