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MAPT
- Supranuclear Palsy, Progressive, 1
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SS18
- Synovial Sarcoma
TTN
- Myopia 23, Autosomal Recessive
- Salih Myopathy
MTHFR
- Neural Tube Defects, Folate-Sensitive
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Mouth Ulcer
STX6
- Supranuclear Palsy, Progressive, 1
PDYN
- Spinocerebellar Ataxia, Autosomal Recessive 23
- Spinocerebellar Ataxia 23
POGZ
- White Sutton Syndrome
- Myopia 23, Autosomal Recessive
OPN1LW
- Colorblindness, Partial, Protan Series
- Myopia 23, Autosomal Recessive
MOBP
- Supranuclear Palsy, Progressive, 1
PAX3
- Neural Tube Defects, Folate-Sensitive
- Synovial Sarcoma
EIF2AK3
- Supranuclear Palsy, Progressive, 1
DOCK7
- Epileptic Encephalopathy, Early Infantile, 23
GTPBP3
- Combined Oxidative Phosphorylation Deficiency 23
VPS13C
- Parkinson Disease 23, Autosomal Recessive Early-Onset
DNAJB2
- Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
PON1
- Paraoxonase 1
- Neural Tube Defects, Folate-Sensitive
TDP2
- Spinocerebellar Ataxia, Autosomal Recessive 23
PEX7
- Rhizomelic Chondrodysplasia Punctata