Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.020 GeneticVariation disease BEFREE Activating mutations of the Ca(2+)-sensing receptor (CaR) gene cause autosomal dominant hypoparathyroidism. 9380434 1997
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.020 GeneticVariation disease BEFREE Activating mutations of the Ca(2+)-sensing receptor (CaR) gene have been identified in families with autosomal dominant hypoparathyroidism and in one patient with sporadic hypoparathyroidism. 9253358 1997