Search syndromes by name or gene

Searching for: TAT

Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation     Familial AML     CEBPA     Show details
Constitutional Mismatch Repair Deficiency Syndrome     CMMR-D, Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III     MLH1, MSH2, MSH6, PMS2     Show details
Fanconi Anemia FILE UNDER CONSTRUCTION     Pancytopenia Dysmelia, FA (several complementation groups)     BRCA2, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG/XRCC9, FANCI, FANCJ, FANCL, FANCM, FANCP/SLX4, PALB2/FANCN     Show details
Fanconi Anemia type D1, bi-allelic BRCA2 mutations     FANCD1     BRCA2     Show details
Fanconi Anemia type N     FANCN, bi-allelic PALB2 mutations     PALB2/FANCN     Show details
Hereditary Prostate Cancer     HPC     BRCA2, CAPB/PCBC/EPHB2, EHBP1/HPC12, ELAC2/HPC2, HNF1B/HPC11, HOXB13, HPC1/HPT1/PRCA1/RNASEL, HPC10, HPC14, HPC15, HPC3, HPC4, HPC5, HPC6, HPC7, HPC9, HPCX1, HPCX2, MSMB/HPC13, PCA3/DD3, PCAP/HPC8     Show details
HRAS mutation somatic mosaicism          HRAS     Show details
Hyperimmunoglobulin E Recurrent Infection Syndrome      HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive     STAT3     Show details
Macrocephaly-Cutis Marmorata syndrome     Megalencephaly-Cutis Marmorata Telangiectatica Congenita, M-CMTC, Macrocephaly-Capillary malformation, M-CM          Show details
Medulloblastoma, associated with Germline SUFU Mutation          SUFU     Show details
Mulvihill-Smith syndrome     Progeroid Short Stature with Pigmented Nevi          Show details
Paraganglioma and Somatostatinoma associated with Polycythemia          EPAS1 / HIF2A     Show details
Porokeratosis     incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis     DSAP2, SART3     Show details
Prostate Cancer, Familial Clustering of               Show details
Punctate Palmoplantar Keratoderma     Buschke-Fischer-Brauer disease, Keratosis Palmoplantaris Papulosa          Show details
TERT Mutation-Associated Haematological Disorders          TERT     Show details