Activity
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| Tubulointerstitial kidney disease v0.3 | UMOD | Eleanor Williams reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: Hart et al 2002 PMID: 12471200, Dahan et al 2003 PMID: 14569098; Phenotypes: Medullary cystic kidney disease 2 MIM 603860, Familial juvenile hyperuricemic nephropathy 1 MIM 162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.2 | UMOD |
Eleanor Williams gene: UMOD was added gene: UMOD was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UMOD were set to 12471200; 14569098 Phenotypes for gene: UMOD were set to Medullary cystic kidney disease 2 MIM 603860; Familial juvenile hyperuricemic nephropathy 1 MIM 162000 Mode of pathogenicity for gene: UMOD was set to Other - please provide details in the comments |
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