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: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0023380
Disease: Lethargy
Lethargy 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0022346
Disease: Icterus
Icterus 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0009806
Disease: Constipation
Constipation 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0917799
Disease: Hypersomnia
Hypersomnia 		disease 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease 0.400 None 0.976 82 0 1997 2020
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease 0.400 None 1.000 80 0 1997 2020
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		disease 0.100 None 1.000 65 0 1997 2020
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.190 None 1.000 9 0 1997 2018
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1 		disease 0.700 None 1.000 8 7 1997 2016
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group 0.100 None 1.000 35 0 1998 2019