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Diseases
Genes (331)
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ASL
Argininosuccinic Aciduria
MYO5B
Microvillus Inclusion Disease
PMM2
Pmm2 Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
MC2R
Familial Glucocorticoid Deficiency
IFIH1
Singleton Merten Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
STX3
Microvillus Inclusion Disease
CTNS
Cystinosis
RB1
Pinealoblastoma
Trilateral Retinoblastoma
MRAP
Familial Glucocorticoid Deficiency
CILP
Lumbar Disc Disease
SART3
Disseminated Superficial Actinic Porokeratosis
COL9A3
Lumbar Disc Disease
DDX58
Singleton Merten Syndrome
ASPN
Lumbar Disc Disease
SOST
Craniodiaphyseal Dysplasia