POLR3A, RNA polymerase III subunit A, 11128

N. diseases: 219; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1399429058
rs1399429058
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 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
dbSNP: rs1399429058
rs1399429058
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs1399429058
rs1399429058
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 30323018 2018
dbSNP: rs757209071
rs757209071
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 30323018 2018
dbSNP: rs757209071
rs757209071
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 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
dbSNP: rs757209071
rs757209071
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs768222183
rs768222183
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs768222183
rs768222183
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 30323018 2018
dbSNP: rs768222183
rs768222183
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 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
dbSNP: rs778985686
rs778985686
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs778985686
rs778985686
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 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
dbSNP: rs778985686
rs778985686
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 30323018 2018
dbSNP: rs1399429058
rs1399429058
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 27612211 2016
dbSNP: rs757209071
rs757209071
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 27612211 2016
dbSNP: rs768222183
rs768222183
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 27612211 2016
dbSNP: rs778985686
rs778985686
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. 27612211 2016
dbSNP: rs138305578
rs138305578
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
C 0.800 GeneticVariation CLINVAR
dbSNP: rs138305578
rs138305578
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs1399429058
rs1399429058
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
T 0.800 GeneticVariation CLINVAR
dbSNP: rs267608671
rs267608671
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
0.800 GeneticVariation UNIPROT
dbSNP: rs267608671
rs267608671
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
C 0.800 CausalMutation CLINVAR
dbSNP: rs757209071
rs757209071
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
T 0.800 GeneticVariation CLINVAR
dbSNP: rs768222183
rs768222183
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs768222183
rs768222183
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
T 0.800 GeneticVariation CLINVAR
dbSNP: rs778985686
rs778985686
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome
T 0.800 CausalMutation CLINVAR