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EIF2AK3
- Wolcott–rallison Syndrome
TTPA
- Familial Isolated Vitamin E Deficiency
TMC6
- Epidermodysplasia Verruciformis
- Common Warts
FGFR3
- Crouzonodermoskeletal Syndrome
- Protein Losing Enteropathy
PQBP1
- Renpenning's Syndrome
POLR3A
- Wiedemann–rautenstrauch Syndrome
TGFBI
- Thiel–behnke Dystrophy
TMC8
- Epidermodysplasia Verruciformis
- Common Warts
IFIH1
- Singleton Merten Syndrome
SLC25A24
- Fontaine Progeroid Syndrome
PPT1
- Infantile Neuronal Ceroid Lipofuscinosis
KIT
- Mast Cell Leukemia
CD55
- Protein Losing Enteropathy
CIB1
- Epidermodysplasia Verruciformis
- Common Warts
- Mast Cell Leukemia
IL7
- Epidermodysplasia Verruciformis
- Common Warts
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
MEF2C
- Stereotypic Movement Disorder
TPP1
- Infantile Neuronal Ceroid Lipofuscinosis
RHOH
- Epidermodysplasia Verruciformis
DDX58
- Singleton Merten Syndrome