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TREX1
- Aicardi-Goutières Syndrome
- Acrocyanosis
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
ADAR
- Aicardi-Goutières Syndrome
- Acrocyanosis
SAMHD1
- Aicardi-Goutières Syndrome
- Acrocyanosis
SS18
- Synovial Sarcoma
IFIH1
- Severe Acute Respiratory Syndrome
- Aicardi-Goutières Syndrome
- Acrocyanosis
DHCR24
- Desmosterolosis
KRT17
- Pachyonychia Congenita
PMM2
- Primary Ovarian Insufficiency
- Pmm2 Deficiency
RNASEH2B
- Aicardi-Goutières Syndrome
- Acrocyanosis
PRRT2
- Severe Acute Respiratory Syndrome
- Benign Familial Infantile Epilepsy
DNAJB13
- Ciliary Dyskinesia, Primary, 34
KRT16
- Pachyonychia Congenita
WT1
- Primary Ovarian Insufficiency
- Schwannoma
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Aicardi-Goutières Syndrome
NF2
- Schwannoma
RNASEH2A
- Aicardi-Goutières Syndrome
- Acrocyanosis
ACE
- Severe Acute Respiratory Syndrome
- Synovial Sarcoma
- Primary Ovarian Insufficiency
KRT6A
- Pachyonychia Congenita