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: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		0.100 Biomarker phenotype HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 Biomarker phenotype HPO
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		0.100 Biomarker disease HPO
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		0.100 Biomarker phenotype HPO
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		0.100 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.100 Biomarker disease HPO
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 AlteredExpression disease BEFREE In addition, we identified an FDA-approved bacteriostatic antibiotic, fusidic acid sodium salt (fusidic acid or FA) as an inhibitor of PRPK, and show that FA combined with 5-fluorouracil (5-FU) inhibited PRPK activity and colon cancer metastasis to the lung in mice. 29483219 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE CREB-miR-630-BCL2L2 and TP53RK comprise a novel signaling cascade regulating radiosensitivity in CRC cell lines by inducing cell apoptosis and death. 26263387 2015
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
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 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 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: 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: C4540270
Disease: GALLOWAY-MOWAT SYNDROME 4
GALLOWAY-MOWAT SYNDROME 4 		0.600 CausalMutation disease CLINVAR
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