TPRKB, TP53RK binding protein, 51002

N. diseases: 54; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540274
Disease: GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. 30053862 2018
CUI: C4540274
Disease: GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 28805828 2017
CUI: C4540274
Disease: GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 28805828 2017
CUI: C4540274
Disease: GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 5 		0.600 GeneticVariation disease UNIPROT Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 28805828 2017
CUI: C4540274
Disease: GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 5 		0.600 CausalMutation disease CLINVAR
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.520 GeneticVariation disease BEFREE WDR73 pathogenic variants were described as the first genetic cause of GAMOS and, very recently, four novel causative genes, OSGEP, LAGE3, TP53RK, and TPRKB, have been identified. 30975089 2019
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.520 GeneticVariation disease BEFREE Galloway-Mowat syndrome (GAMOS) (OMIM #251300) is a severe autosomal recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73 as well as OSGEP, TP53RK, TPRKB, or LAGE3 mutations. 30141175 2018
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.520 Biomarker disease CTD_human Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. 28805828 2017
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.520 GermlineCausalMutation disease ORPHANET Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. 28805828 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE Galloway-Mowat syndrome (GAMOS) (OMIM #251300) is a severe autosomal recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73 as well as OSGEP, TP53RK, TPRKB, or LAGE3 mutations. 30141175 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 GeneticVariation group GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013604
Disease: Edema
Edema 		0.100 Biomarker phenotype HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.100 Biomarker group HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO