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allelic diseases

Monday 6 October 2003

Two different diseases caused by mutations of the same gene.


- PTEN-associated diseases
- RET-associated diseases
- LMNA-associated diseases
- PTPN11-associated disease (Noonan syndrome and LEOPARD syndrome)
- BMPR1A-associated diseases (juvenile polyposis and Cowden disease)
- CIAS1-associated diseases (chronic infantile neurological cutaneous and articular syndrome (CINCA syndrome), Muckle-Wells syndrome and familial cold urticaria)
- ERCC3-associated diseases (type B xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy)
- FLJ90130-associated diseases (Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia)