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BMPR1A
- Juvenile Polyposis Syndrome
SMAD4
- Juvenile Polyposis Syndrome
TTPA
- Familial Isolated Vitamin E Deficiency
PMM2
- Pmm2 Deficiency
- Cutis Laxa
FECH
- Erythropoietic Protoporphyria
PQBP1
- Renpenning's Syndrome
FAM20A
- Enamel-Renal Syndrome
RECQL4
- Baller–gerold Syndrome
RHBDF2
- Howel–evans Syndrome
FBLN5
- Cutis Laxa
ELN
- Cutis Laxa
SHH
- Holoprosencephaly
SIX3
- Holoprosencephaly
TGIF1
- Holoprosencephaly
GLI2
- Holoprosencephaly
IFIH1
- Singleton Merten Syndrome
PYCR1
- Cutis Laxa
EFEMP2
- Cutis Laxa
ENG
- Juvenile Polyposis Syndrome
NODAL
- Holoprosencephaly