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Diseases
Genes (173)
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TTPA
Familial Isolated Vitamin E Deficiency
SLC4A1
Southeast Asian Ovalocytosis
SRD5A2
5α-Reductase Deficiency
IFIH1
Singleton Merten Syndrome
PRNP
Kuru, Susceptibility To
Akinetic Mutism
RB1
Pinealoblastoma
Trilateral Retinoblastoma
DDX58
Singleton Merten Syndrome
CYP17A1
Oligomenorrhea
APOB
Familial Isolated Vitamin E Deficiency
APOA1
Familial Isolated Vitamin E Deficiency
ACTN3
Actn3 Deficiency
BSCL2
Clitoromegaly
Oligomenorrhea
AGPAT2
Clitoromegaly
Oligomenorrhea
DICER1
Pinealoblastoma
SRY
Clitoromegaly
NR5A1
Clitoromegaly
NR0B1
Clitoromegaly
CDC45
Clitoromegaly
PEX3
Clitoromegaly
CDK13
Clitoromegaly