allelic diseases
allelic disorders
Two different diseases caused by mutations of the same gene.
Exemples
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)
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