ADCY5, adenylate cyclase 5, 111

N. diseases: 103; N. variants: 23
Disease: Cerebral Palsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 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