Disease Term Disease ID Gene Symbol Classification References Source
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness C0403554 ATP6V1B1 Causal Pathogenic evidence from ClinVar 9916796, 12414817, 12579397, 18798332, 28233610, 28934385 ClinVar
VAX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18798332, 28233610 -