Source: UNIPROT

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 GeneticVariation UNIPROT 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 UNIPROT Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. 30450527

2018
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome 		0.720 GeneticVariation UNIPROT Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 30323018

2018
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome 		0.720 GeneticVariation UNIPROT Here we report an infant with the characteristic phenotypic features of Wiedemann-Rautenstrauch syndrome in whom exome sequencing identified two pathogenic variants in POLR3A: c.1909+18G>A; p.(Y637Cfs*23) and c.2617C>T; p.(R873*). 27612211

2016