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Diseases
Genes (558)
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ASL
Argininosuccinic Aciduria
MYO5B
Microvillus Inclusion Disease
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
PQBP1
Renpenning's Syndrome
IFIH1
Valvular Heart Disease
Singleton Merten Syndrome
Polymyositis
MC2R
Familial Glucocorticoid Deficiency
TNF
Valvular Heart Disease
Hypopigmentation
Lumbar Disc Disease
Polymyositis
Familial Isolated Vitamin E Deficiency
Renpenning's Syndrome
IL1B
Erdheim–chester Disease
Valvular Heart Disease
Polymyositis
Renpenning's Syndrome
STX3
Microvillus Inclusion Disease
HTR2B
Valvular Heart Disease
BRAF
Erdheim–chester Disease
EPG5
Hypopigmentation
RB1
Pinealoblastoma
Trilateral Retinoblastoma
MRAP
Familial Glucocorticoid Deficiency
FGFR1
Valvular Heart Disease
Lumbar Disc Disease
TIMP1
Valvular Heart Disease
Lumbar Disc Disease
Polymyositis
CILP
Lumbar Disc Disease
DDX58
Singleton Merten Syndrome
Polymyositis