rs557128345, WDR72

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
CUI: C2750771
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia3
0.700 CausalMutation CLINVAR Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations. 30028003 2018
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
CUI: C1969038
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.700 CausalMutation CLINVAR Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations. 30028003 2018
Distal Renal Tubular Acidosis
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
0.010 GeneticVariation BEFREE In addition, homozygous nonsense mutation (c.2686C>T [p.R896X]) was identified in another family, strongly supporting the causal role of WDR72 in dRTA. 30028003 2018