TP53RK, TP53 regulating kinase, 112858

N. diseases: 56; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540270
Disease: GALLOWAY-MOWAT SYNDROME 4
GALLOWAY-MOWAT SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 28805828 2017
CUI: C4540270
Disease: GALLOWAY-MOWAT SYNDROME 4
GALLOWAY-MOWAT SYNDROME 4 		0.600 GeneticVariation disease UNIPROT Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 28805828 2017
CUI: C4540270
Disease: GALLOWAY-MOWAT SYNDROME 4
GALLOWAY-MOWAT SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 28805828 2017
CUI: C4540270
Disease: GALLOWAY-MOWAT SYNDROME 4
GALLOWAY-MOWAT SYNDROME 4 		0.600 CausalMutation disease CLINVAR
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.520 GeneticVariation disease BEFREE To our knowledge, this is only the second report on GAMOS in association with a TP53RK mutation. 30053862 2018
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: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 Biomarker group BEFREE Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. 28805828 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease 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
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 Biomarker phenotype HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO