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Diseases
Genes (1015)
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BLM
Bloom Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
SCN1A
Hippocampal Sclerosis
Dravet Syndrome
PQBP1
Renpenning's Syndrome
FBLN5
Cutis Laxa
ELN
Cutis Laxa
IFIH1
Singleton Merten Syndrome
PYCR1
Cutis Laxa
EFEMP2
Cutis Laxa
Cholera
LTBP4
Cutis Laxa
Bloom Syndrome
TP53
Bloom Syndrome
Adenoid Cystic Carcinoma
Esthesioneuroblastoma
KIT
Urticaria Pigmentosa
Cholera
Adenoid Cystic Carcinoma
Telangiectasia Macularis Eruptiva Perstans
SCN9A
Dravet Syndrome
CD55
Protein Losing Enteropathy
Cholera
PTEN
Thrombophlebitis
Protein Losing Enteropathy
Cholera
Adenoid Cystic Carcinoma
STXBP1
Dravet Syndrome
PIK3CA
Endometrial Intraepithelial Neoplasia
Cholera
Adenoid Cystic Carcinoma
NOTCH1
Adenoid Cystic Carcinoma
FBXW7
Cholera
Adenoid Cystic Carcinoma
TBC1D24
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer's Cramp