VAX2, ventral anterior homeobox 2, 25806

N. diseases: 15; N. variants: 16
Disease: Distal Renal Tubular Acidosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		0.010 GeneticVariation disease BEFREE The genomic deletion reported here is firstly, the only reported example of a whole gene deletion to underlie Distal Renal Tubular Acidosis, where the clinical phenotype is indistinguishable from that of other patients with ATP6V1B1 mutations; secondly, this is the first reported example of a human VAX2 mutation and associated ocular phenotype, supporting speculation in the literature that VAX2 is important for correct retinal functioning. 26068435 2015