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Diseases
Genes (730)
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BLM
Bloom Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
SCN1A
Hippocampal Sclerosis
Dravet Syndrome
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
FBLN5
Cutis Laxa
ELN
Cutis Laxa
IFIH1
Singleton Merten Syndrome
PYCR1
Cutis Laxa
EFEMP2
Cutis Laxa
Cholera
LTBP4
Cutis Laxa
Bloom Syndrome
SCN9A
Dravet Syndrome
ASS1
Citrullinemia Type I
STXBP1
Dravet Syndrome
KIT
Urticaria Pigmentosa
Cholera
Telangiectasia Macularis Eruptiva Perstans
TBC1D24
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer's Cramp
RB1
Pinealoblastoma
Trilateral Retinoblastoma
SCN1B
Dravet Syndrome
Enamel-Renal Syndrome
ATP7A
Cutis Laxa
SCN2A
Dravet Syndrome