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Diseases
Genes (193)
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SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
5-Alpha Reductase Deficiency
PRNP
Akinetic Mutism
Kuru (Disease)
Variant Creutzfeldt–jakob Disease
TTPA
Familial Isolated Vitamin E Deficiency
SLC4A1
Southeast Asian Ovalocytosis
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
ASS1
Citrullinemia Type I
CTNS
Cystinosis
RB1
Pinealoblastoma
Trilateral Retinoblastoma
DDX58
Singleton Merten Syndrome
SLC11A1
Buruli Ulcer
SOST
Craniodiaphyseal Dysplasia
FH
Fumarase Deficiency
APOB
Familial Isolated Vitamin E Deficiency
APOA1
Familial Isolated Vitamin E Deficiency
ALDH1A1
Variant Creutzfeldt–jakob Disease
H4C4
Variant Creutzfeldt–jakob Disease
SNORA16B
Variant Creutzfeldt–jakob Disease
KRT73
Variant Creutzfeldt–jakob Disease