WDR73, WD repeat domain 73, 84942

N. diseases: 98; N. variants: 13
Disease: GALLOWAY-MOWAT SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. 26070982 2015
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		0.400 GeneticVariation disease CLINVAR Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. 25466283 2014
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. 25466283 2014
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND Perinatal imaging findings of Galloway-Mowat syndrome. 18019379 2007
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		0.400 CausalMutation disease CLINVAR
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		0.400 Biomarker disease GENOMICS_ENGLAND