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ABHD5
- Cerebral Creatine Deficiency
SLC19A2
- Unc119 Lipid-Binding Chaperone
- Thiamine-Responsive Megaloblastic Anemia Syndrome
UNC119
- Immunodeficiency 13
- Unc119 Lipid-Binding Chaperone
GAMT
- Guanidinoacetate Methyltransferase Deficiency
RAI1
- Smith–magenis Syndrome
DHCR7
- Smith-Lemli-Opitz Syndrome
EZH2
- Weaver Syndrome
MED12
- Fg Syndrome
UBE3B
- Kaufman Oculocerebrofacial Syndrome
GNAS
- Mccune-Albright Syndrome
RFX6
- Mitchell-Riley Syndrome
SRD5A2
- Alopecia, Androgenetic, 1
- Prostate Cancer, Hereditary, 1
MTOR
- Smith-Kingsmore Syndrome
RNASEL
- Prostate Cancer, Hereditary, 1
NSD1
- Weaver Syndrome
CFH
- Membranoproliferative Glomerulonephritis
LEMD2
- Cataract 46, Juvenile-Onset
HOXB13
- Prostate Cancer, Hereditary, 1
ELAC2
- Prostate Cancer, Hereditary, 1
MSR1
- Prostate Cancer, Hereditary, 1