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MYO5B
- Microvillus Inclusion Disease
SNAP29
- Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
TTPA
- Familial Isolated Vitamin E Deficiency
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
PQBP1
- Renpenning's Syndrome
COL18A1
- Knobloch Syndrome 1
DSG1
- Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
MC2R
- Familial Glucocorticoid Deficiency
IFIH1
- Singleton Merten Syndrome
STX3
- Microvillus Inclusion Disease
CD55
- Protein Losing Enteropathy
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
MRAP
- Familial Glucocorticoid Deficiency
CILP
- Lumbar Disc Disease
STAR
- Adrenal Crisis
- Familial Glucocorticoid Deficiency
COL9A3
- Lumbar Disc Disease
SART3
- Disseminated Superficial Actinic Porokeratosis
DDX58
- Singleton Merten Syndrome
ASPN
- Lumbar Disc Disease
COL11A1
- Lumbar Disc Disease