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ABHD5
- Cerebral Creatine Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
BEST1
- Vitelliform Macular Dystrophy
OPN1SW
- Tritanopia
ACTG2
- Berdon Syndrome
OPN1LW
- Colorblindness, Partial, Protan Series
MYH11
- Berdon Syndrome
MYLK
- Berdon Syndrome
PRPH2
- Vitelliform Macular Dystrophy
AR
- Placental Site Trophoblastic Tumor
- Alopecia, Androgenetic, 1
- Colorblindness, Partial, Protan Series
SRD5A2
- Alopecia, Androgenetic, 1
WWTR1
- Hemangioendothelioma
- Epithelioid Hemangioendothelioma
TFE3
- Vascular Tumor
- Epithelioid Hemangioendothelioma
CAMTA1
- Hemangioendothelioma
- Epithelioid Hemangioendothelioma
YAP1
- Epithelioid Hemangioendothelioma
IMPG1
- Vitelliform Macular Dystrophy
LMOD1
- Berdon Syndrome
ZFP36
- Vascular Tumor
- Alopecia, Androgenetic, 1
IMPG2
- Vitelliform Macular Dystrophy
CNGA3
- Tritanopia