Source: GENOMICS_ENGLAND

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: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.300 None 1.000 2 0 2017 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C1855755
Disease: Abnormal immunoglobulin level
Abnormal immunoglobulin level 		phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 None 1.000 1 0 2017 2017
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype 0.300 None 1.000 1 0 2017 2017
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype 0.300 None 1.000 1 0 2018 2018