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Diseases
Genes (918)
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TP53
Disseminated Superficial Actinic Porokeratosis
Li–fraumeni Syndrome
Alopecia, Androgenetic, 1
Shwachman–diamond Syndrome
ABHD5
Cerebral Creatine Deficiency
PYGM
Glycogen Storage Disease Type V
TTPA
Familial Isolated Vitamin E Deficiency
SBDS
Shwachman–diamond Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
SIX1
Branchio-Oto-Renal Syndrome
PQBP1
Hypospadias
Renpenning's Syndrome
EYA1
Branchio-Oto-Renal Syndrome
Hypospadias
COL2A1
Collagen, Type Ii, Alpha-1
ASS1
Citrullinemia Type I
FAM20A
Enamel-Renal Syndrome
DNAAF3
Primary Ciliary Dyskinesia
DRC1
Primary Ciliary Dyskinesia
CHEK2
Li–fraumeni Syndrome
IFIH1
Singleton Merten Syndrome
AR
Li–fraumeni Syndrome
Alopecia, Androgenetic, 1
Hypospadias
LIPA
Acid Lipase Disease
DNAI1
Primary Ciliary Dyskinesia
CCDC151
Primary Ciliary Dyskinesia