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PAX2 - paired box 2

Synonym(s) :
Previous symbols and names : paired box gene 2
Type : gene with protein product
Chromosomal location : 10q24.31
OMIM: 167409
HGNC: 8616
UniProtKB: Q02962
Genatlas: PAX2
GenCC: PAX2
Ensembl: ENSG00000075891
IUPHAR-DB: -
Reactome: -
LOVD: PAX2

Diseases list

Disease-causing germline mutation(s) in Renal coloboma syndrome ORPHA:1475
Disease-causing germline mutation(s) (loss of function) in Genetic steroid-resistant nephrotic syndrome ORPHA:656
Major susceptibility factor in Renal hypoplasia, bilateral ORPHA:97362

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (91)

Research activities on this gene

Specialised Social Services

Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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