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KRT17
- Pachyonychia Congenita
- Epithelioma
KRT16
- Pachyonychia Congenita
PTCH1
- Epithelioma
- Holoprosencephaly
- Axenfeld–rieger Syndrome
- Diktyoma
SHH
- Holoprosencephaly
SIX3
- Holoprosencephaly
TGIF1
- Holoprosencephaly
GLI2
- Holoprosencephaly
NSDHL
- Child Syndrome
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
WT1
- Epithelioma
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
KRT6A
- Pachyonychia Congenita
DOCK8
- Hyperimmunoglobulin E Syndrome
NODAL
- Holoprosencephaly
STAT3
- Hyperimmunoglobulin E Syndrome
- Hypovolemia
KRT6B
- Pachyonychia Congenita
ZIC2
- Holoprosencephaly
KRT10
- Pachyonychia Congenita
PITX2
- Axenfeld–rieger Syndrome
CDON
- Holoprosencephaly
FGF8
- Holoprosencephaly