Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.110 Biomarker disease BEFREE In 23 patients molecular diagnosis was reached and included 5 hereditary spastic paraplegia genes (SPG) in spastic CP mimics; HPRT1, TH, QDPR, DDC in dystonic CP mimics; ADCY5 and NIKX2-1 in choreic CP mimics; CANA1A in ataxic CP mimics; and SPG, PDHA1, NIKX2-1, AT, SLC2A1 and SPR in mixed CP mimics. 30799092 2019
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.110 GeneticVariation disease CLINVAR