The portal for rare diseases and orphan drugs

Diseases list

• Disease-causing germline mutation(s) in Denys-Drash syndrome ORPHA:220
• Disease-causing germline mutation(s) in Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis ORPHA:93217
• Disease-causing germline mutation(s) in Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis ORPHA:93213
• Disease-causing germline mutation(s) in Frasier syndrome ORPHA:347
• Disease-causing germline mutation(s) in Meacham syndrome ORPHA:3097
• Disease-causing germline mutation(s) in Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis ORPHA:93220
• Disease-causing somatic mutation(s) in Nephroblastoma ORPHA:654
• Part of a fusion gene in Desmoplastic small round cell tumor ORPHA:83469
• Role in the phenotype of WAGR syndrome ORPHA:893
• Major susceptibility factor in Nephroblastoma ORPHA:654
• Candidate gene tested in 46,XY complete gonadal dysgenesis ORPHA:242
• Candidate gene tested in 46,XY partial gonadal dysgenesis ORPHA:251510