Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.120 GeneticVariation BEFREE Up to 25-30% of HPRT deficient patients, indicated as neurological variants or HPRT-related hyperuricemia with neurological dysfunction (HRND), may develop neurological manifestation, from mild to severe; the most serious ones manifesting in the devastating Lesch-Nyhan syndrome, characterized by choreoathetosis or self-mutilation. 12508781

2003
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.120 Biomarker BEFREE The complete deficiency of HPRT is diagnostic of Lesch-Nyhan syndrome manifested by choreoathetosis, spasticity, mental retardation, and self-injurious behavior. 11307586

2001
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.120 Biomarker HPO