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VPS13A
- Neuroacanthocytosis
LMX1B
- Nail–patella Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SRY
- Xy Gonadal Dysgenesis
- Xyy Syndrome
- Triple X Syndrome
- Klinefelter Syndrome
KRT17
- Pachyonychia Congenita
- Keratoacanthoma
SS18
- Synovial Sarcoma
NR5A1
- Xy Gonadal Dysgenesis
- Nail–patella Syndrome
- Klinefelter Syndrome
RPS14
- Chromosome 5q Deletion Syndrome
KRT16
- Pachyonychia Congenita
SOX9
- Xy Gonadal Dysgenesis
- Klinefelter Syndrome
DMRT1
- Xy Gonadal Dysgenesis
ZFPM2
- Xy Gonadal Dysgenesis
MAP3K1
- Xy Gonadal Dysgenesis
DHH
- Xy Gonadal Dysgenesis
WT1
- Xy Gonadal Dysgenesis
CBX2
- Xy Gonadal Dysgenesis
BCL2
- Synovial Sarcoma
- Keratoacanthoma
- Edwards Syndrome
ACE
- Severe Acute Respiratory Syndrome
- Synovial Sarcoma
KRT6A
- Pachyonychia Congenita