SLC5A5, solute carrier family 5 member 5, 6528

N. diseases: 195; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1 		0.700 CausalMutation disease CLINVAR
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1 		0.700 Biomarker disease CTD_human
CUI: C0018021
Disease: Goiter
Goiter 		0.460 Biomarker phenotype HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.190 Biomarker disease HPO
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.100 Biomarker phenotype HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0917799
Disease: Hypersomnia
Hypersomnia 		0.100 Biomarker disease HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker phenotype HPO
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1 		0.700 Biomarker disease GENOMICS_ENGLAND Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 9171822 1997
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1 		0.700 GeneticVariation disease UNIPROT Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 9171822 1997