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PKLR
- Pyruvate Kinase Deficiency Of Red Cells
- Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
APOB
- Hypercholesterolemia
- Xanthelasma
LDLR
- Hypercholesterolemia
- Xanthelasma
RHBDF2
- Howel–evans Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
GNAQ
- Uveal Melanoma
- Hypercholesterolemia
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
CAPN5
- Proliferative Vitreoretinopathy
SS18
- Synovial Sarcoma
TP53
- Synovial Sarcoma
- Proliferative Vitreoretinopathy
- Uveal Melanoma
- Squamous Cell Skin Cancer
- Penile Cancer
APOE
- Hypercholesterolemia
- Xanthelasma
SF3B1
- Uveal Melanoma
- Squamous Cell Skin Cancer
PCSK9
- Hypercholesterolemia
CYP7A1
- Hypercholesterolemia
LPL
- Hypercholesterolemia
BCL2
- Synovial Sarcoma
- Proliferative Vitreoretinopathy
- Uveal Melanoma
- Squamous Cell Skin Cancer
- Hypercholesterolemia
CYSLTR2
- Uveal Melanoma
HMGCR
- Hypercholesterolemia