Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.800 GeneticVariation LHGDN Nine probands with a firm clinical diagnosis of PWS but who had neither a typical deletion in the PWS region nor UPD(15)mat were investigated for inactivating mutations in 11 genes located in the PWS region, including SNURF and SNRPN, which are associated with the imprinting centre. 17262171

2007

Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.800 Biomarker LHGDN Mice harbouring an intragenic deletion in Snrpn are phenotypically normal, suggesting that mutations of SNRPN are not sufficient to induce PWS. 9590284

1998