P315-EGFR
Tumours, solid
|
P155-EDS
The Ehlers-Danlos syndrome type III (EDS III)
|
P047-RB1
Retinoblastoma (RB)
|
P078-Breast tumour
Breast tumour
|
P048-LMNA/MYOT/ZMPSTE24
Laminopathies, Limb-girdle muscular dystrophy, Myofibrillar myopathies
|
P032-FANCA mix 2
Fanconi Anemia (FA)
|
P031-FANCA mix 1
Fanconi Anemia (FA)
|
P046-TSC2
Tuberous Sclerosis
|
P029-WBS
Williams-Beuren syndrome
|
P186-PAX3-MITF-SOX10
Waardenburg syndrome (WS) type II, WS1, WS3
|
P212-DBA
Diamond-Blackfan anemia (DBA)
|
P066-Marfan-2
Marfan syndrome
|
P065-Marfan-1
Marfan syndrome
|
P124-TSC1
Tuberous Sclerosis
|