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Diseases
Genes (471)
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TTPA
Familial Isolated Vitamin E Deficiency
COL2A1
Collagen, Type Ii, Alpha-1
PQBP1
Renpenning's Syndrome
SLC20A2
Primary Familial Brain Calcification
MED12
Fg Syndrome
PDGFRB
Primary Familial Brain Calcification
FAM20A
Enamel-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
FLNA
Aneurysm Of Sinus Of Valsalva
Intestinal Neuronal Dysplasia
Fg Syndrome
PAH
Phenylketonuria
ASS1
Citrullinemia Type I
PDGFB
Primary Familial Brain Calcification
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
CTNS
Cystinosis
RB1
Pinealoblastoma
Trilateral Retinoblastoma
LEMD3
Melorheostosis
DDX58
Singleton Merten Syndrome