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Diseases
Genes (512)
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TTPA
Familial Isolated Vitamin E Deficiency
GBA
Gaucher Disease Type 1
MYH7
Laing Early-Onset Distal Myopathy
Familial Isolated Restrictive Cardiomyopathy
PQBP1
Renpenning's Syndrome
TNNI3
Familial Isolated Restrictive Cardiomyopathy
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
DICER1
Pinealoblastoma
Dicer1 Syndrome
NEK9
Nevus Comedonicus
IFIH1
Singleton Merten Syndrome
PDGFB
Primary Familial Brain Calcification
MTHFR
Spina Bifida
Familial Isolated Vitamin E Deficiency
PAX3
Spina Bifida
RB1
Pinealoblastoma
Trilateral Retinoblastoma
SNCA
Gaucher Disease Type 1
PDGFRA
Spina Bifida
TTN
Laing Early-Onset Distal Myopathy
Heart Failure With Preserved Ejection Fraction
VANGL2
Spina Bifida
CHIT1
Gaucher Disease Type 1
PCMT1
Spina Bifida