SLC29A3, solute carrier family 29 member 3, 55315

N. diseases: 123; N. variants: 21
Disease: Hyperpigmentation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.400 Biomarker phenotype CTD_human Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. 20140240 2010
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.400 Biomarker phenotype CTD_human SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. 19336477 2009
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.400 Biomarker phenotype HPO