Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		disease 0.700 None 1.000 7 11 2014 2017
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease 0.330 None 1.000 3 0 2015 2018
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease 0.320 None 1.000 2 0 2015 2018
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome 		disease 0.310 None 1.000 1 0 2017 2017
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C1291560
Disease: Deficiency of glutamate decarboxylase
Deficiency of glutamate decarboxylase 		disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT 		disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.150 None 1.000 5 0 2014 2018
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.150 None 1.000 5 1 2015 2018
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.140 None 1.000 4 1 2016 2018
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.120 None 1.000 2 1 2014 2017
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.110 None 1.000 1 0 2017 2017
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0202202
Disease: Protein measurement
Protein measurement 		group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0