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ABHD5
- Cerebral Creatine Deficiency
BEST1
- Vitelliform Macular Dystrophy
GAMT
- Guanidinoacetate Methyltransferase Deficiency
OPN1SW
- Tritanopia
OPN1LW
- Colorblindness, Partial, Protan Series
MRPS34
- Combined Oxidative Phosphorylation Deficiency 32
PRPH2
- Vitelliform Macular Dystrophy
SRD5A2
- Alopecia, Androgenetic, 1
WWTR1
- Hemangioendothelioma
- Epithelioid Hemangioendothelioma
AR
- Alopecia, Androgenetic, 1
- Colorblindness, Partial, Protan Series
TFE3
- Vascular Tumor
- Epithelioid Hemangioendothelioma
CAMTA1
- Hemangioendothelioma
- Epithelioid Hemangioendothelioma
YAP1
- Epithelioid Hemangioendothelioma
IMPG1
- Vitelliform Macular Dystrophy
VDR
- Alopecia, Androgenetic, 1
- Neonatal Sepsis
ATF6
- Tritanopia
- Hereditary Mucoepithelial Dysplasia
ZFP36
- Vascular Tumor
- Alopecia, Androgenetic, 1
IMPG2
- Vitelliform Macular Dystrophy
PDGFRA
- Loeffler Endocarditis
FIP1L1
- Loeffler Endocarditis