Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		1.000 Biomarker MGD Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. 20221250

2010
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		1.000 Biomarker MGD Vesico-ureteric reflux (VUR) is a urinary tract abnormality that affects roughly one-third of patients with renal-coloboma syndrome, an autosomal dominant condition caused by a mutation in PAX2. 17881463

2007
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		1.000 Biomarker MGD In humans, mutations in the PAX2 gene cause renal coloboma syndrome that is characterized by kidney abnormalities, optic nerve colobomas and mild sensorineural deafness. 15242798

2004
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		1.000 Biomarker MGD Pax2 contributes to inner ear patterning and optic nerve trajectory. 8951055

1996
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		1.000 Biomarker MGD Pax-2 controls multiple steps of urogenital development. 8575306

1995