Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.750 CausalMutation CLINVAR Clear cell sarcoma of tendons and aponeurosis--a case report. 614258

1977
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
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.170 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.130 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 GeneticVariation CLINVAR

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.110 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.110 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.100 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0009676
Disease: Confusion
Confusion 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker HPO