Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 125
Gene Symbol: ADH1B
ADH1B
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder)
0.010 GeneticVariation BEFREE Recently, we identified gain-of-function mutations in Gα<sub>11</sub> in patients with autosomal-dominant hypocalcemia type 2 (ADH2), an inherited disorder of hypocalcemia, low parathyroid hormone (PTH), and hyperphosphatemia. 28194446

2017