TPRKB, TP53RK binding protein, 51002

N. diseases: 54; N. variants: 3
Disease: GALLOWAY-MOWAT SYNDROME 5 ×
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