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AR
- Pneumonia
- X-Linked Severe Combined Immunodeficiency
- Complete Androgen Insensitivity Syndrome
- Langerhans Cell Histiocytosis
TBX1
- Digeorge Syndrome
UBE3A
- Angelman Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
IL2RG
- Pneumonia
- X-Linked Severe Combined Immunodeficiency
CXCL1
- Severe Acute Respiratory Syndrome
- Pneumonia
BRAF
- Postural Orthostatic Tachycardia Syndrome
- Langerhans Cell Histiocytosis
SS18
- Synovial Sarcoma
BCOR
- Synovial Sarcoma
- Postural Orthostatic Tachycardia Syndrome
- Microphthalmia, Syndromic 2
IL1B
- Synovial Sarcoma
- Pneumonia
- Complete Androgen Insensitivity Syndrome
- Langerhans Cell Histiocytosis
- Temporomandibular Joint Dysfunction
PCDH19
- Epilepsy-Intellectual Disability In Females
KRT17
- Pachyonychia Congenita
F7
- Factor Vii Deficiency
NAA10
- Microphthalmia, Syndromic 2
COMT
- Generalized Anxiety Disorder
- Digeorge Syndrome
- Temporomandibular Joint Dysfunction
PADI6
- Preimplantation Embryonic Lethality 2
CCL2
- Severe Acute Respiratory Syndrome
- Pneumonia
- Temporomandibular Joint Dysfunction
KRT16
- Pachyonychia Congenita
BCL2
- Synovial Sarcoma
- Pneumonia
- Generalized Anxiety Disorder
- Digeorge Syndrome
- Langerhans Cell Histiocytosis