Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome
0.720 CausalMutation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627

2018

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome
0.720 GeneticVariation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627

2018