DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Wiedemann-Rautenstrauch syndrome ×

Gene: POLR3A ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs138305578

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1399429058

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

30323018

2018

dbSNP:

rs1399429058

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

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

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

30414627

2018

dbSNP:

rs1399429058

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

27612211

2016

dbSNP:

rs757209071

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

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

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

30414627

2018

dbSNP:

rs757209071

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

30323018

2018

dbSNP:

rs757209071

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

27612211

2016

dbSNP:

rs768222183

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

30323018

2018

dbSNP:

rs768222183

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

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:

rs768222183

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

30414627

2018

dbSNP:

rs768222183

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

27612211

2016

dbSNP:

rs778985686

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

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

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

30323018

2018

dbSNP:

rs778985686

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

30414627

2018

dbSNP:

rs778985686

POLR3A

CUI:	C0406586
Disease:	Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome

0.800

GeneticVariation

UNIPROT

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

27612211

2016