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Diseases
Genes (347)
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TTPA
Pyramidal Signs
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
ASL
Argininosuccinic Aciduria
PQBP1
Renpenning's Syndrome
IFIH1
Pyramidal Signs
Singleton Merten Syndrome
FAM20A
Enamel-Renal Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
RB1
Pinealoblastoma
Trilateral Retinoblastoma
DDX58
Singleton Merten Syndrome
SOST
Craniodiaphyseal Dysplasia
HLA-DQB1
Cervicitis
Kleine-Levin Hibernation Syndrome
FH
Fumarase Deficiency
JUN
Erethism
S100B
Erethism
APOB
Familial Isolated Vitamin E Deficiency
APOA1
Familial Isolated Vitamin E Deficiency
FLNA
Intestinal Neuronal Dysplasia
ZFPM2
Tricuspid Atresia
TGFBR2
Pyramidal Signs
Uterine Rupture
ACTN3
Actn3 Deficiency