Search syndromes by name or gene

Searching for: ATIC

SyndromeSynonymGenes 
Byler disease     PFIC-1, incl.: Byler syndrome, Progressive Familial Intrahepatic Cholestasis     FIC1/ATP8B1     Show details
Hepatic Adenoma, Familial Clustering of     incl. Maturity-Onset Diabetes of the Young type 3, MODY3     HNF1A     Show details
HRAS mutation somatic mosaicism          HRAS     Show details
Macrocephaly-Cutis Marmorata syndrome     Megalencephaly-Cutis Marmorata Telangiectatica Congenita, M-CMTC, Macrocephaly-Capillary malformation, M-CM          Show details
Nasopharyngeal Teratoma and Diaphragmatic Hernia               Show details
PALB2-associated Familial Breast and Pancreatic Cancer          PALB2/FANCN     Show details
Pancreatic Cancer, Familial Clustering of     incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1     ATM, BRCA2, PALB2/FANCN, PALLD     Show details