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ALS2
- Juvenile Primary Lateral Sclerosis
- Infantile-Onset Ascending Hereditary Spastic Paralysis
TP53
- Alopecia, Androgenetic, 1
- Disseminated Superficial Actinic Porokeratosis
- Myotonic Dystrophy
- Li–fraumeni Syndrome
- Epidermoid Cysts
- Marinesco–sjögren Syndrome
CHM
- Choroideremia
ABHD5
- Cerebral Creatine Deficiency
VPS33B
- Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MYO5B
- Microvillus Inclusion Disease
GAMT
- Guanidinoacetate Methyltransferase Deficiency
NF1
- Li–fraumeni Syndrome
- Neurofibromatosis
- Watson Syndrome
SNAP29
- Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
VIPAS39
- Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MYO5A
- Griscelli Syndrome
RAB3GAP1
- Warburg Micro Syndrome 3
MEGF8
- Carpenter Syndrome 1
GNAS
- Progressive Osseous Heteroplasia
PTEN
- Proteus-Like Syndrome
- Li–fraumeni Syndrome
- Lumbar Disc Disease
- Marinesco–sjögren Syndrome
SIL1
- Polycystic Liver Disease
- Marinesco–sjögren Syndrome
PTPN11
- Metachondromatosis
RAB23
- Carpenter Syndrome 1
ZAP70
- Zap70 Deficiency
RAC2
- Neutrophil Immunodeficiency Syndrome