SLC17A5, solute carrier family 17 member 5, 26503

N. diseases: 252; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 Biomarker phenotype HPO
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0239801
Disease: Blonde hair
Blonde hair 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia 		0.100 Biomarker disease HPO
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes 		0.100 Biomarker phenotype HPO
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1843392
Disease: Death in childhood
Death in childhood 		0.100 Biomarker phenotype HPO
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker phenotype HPO
CUI: C1849221
Disease: Fair hair
Fair hair 		0.100 Biomarker phenotype HPO
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1858452
Disease: Thickened calvaria
Thickened calvaria 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO