Mutations in GNAI2 Cause Developmental Abnormalities and Immune Dysregulation
Demographics (2)
- SEX - Biological sex (phv00497987.v1.p1)
- SEX - Biological sex (phv00497982.v1.p1)
Disease Events (5)
- AFFECTION_STATUS - Case control status of subject for GNAI2 deficiency (phv00497991.v1.p1)
- Autoimmunity - Autoimmunity (phv00497997.v1.p1)
- Endocrine Abnormalities - Endocrine Abnormalities (phv00497998.v1.p1)
- Neurologic abnormalities - Neurologic abnormalities (phv00497994.v1.p1)
- Recurrent Infections - Recurrent Infections (phv00497995.v1.p1)
General Health (1)
- Bony Defects - Bony Defects (phv00497993.v1.p1)
Imaging (1)
- Dysmorphism - Dysmorphism (phv00497992.v1.p1)
Other (14)
- ANALYTE_TYPE - Analyte Type (phv00498002.v1.p1)
- Atopy - Atopy (phv00497996.v1.p1)
- BODY_SITE - Body site where sample was collected (phv00498001.v1.p1)
- CONSENT - Consent group as determined by DAC (phv00497981.v1.p1)
- FAMILY_ID - Family ID (phv00497983.v1.p1)
- FATHER - Father's Subject ID (phv00497985.v1.p1)
- GNAI2 genetic variant - Deleterious variant in gene GNAI2 (phv00497999.v1.p1)
- MOTHER - Mother's Subject ID (phv00497986.v1.p1)
- SAMPLE_ID - Sample ID (phv00498000.v1.p1)
- SAMPLE_ID - Sample ID (phv00497989.v1.p1)
- SUBJECT_ID - Subject ID (phv00497990.v1.p1)
- SUBJECT_ID - Subject ID (phv00497984.v1.p1)
- SUBJECT_ID - Subject ID (phv00497980.v1.p1)
- SUBJECT_ID - Subject ID (phv00497988.v1.p1)