Table 1.
Annotation terms identified to be pertinent to XLMR using a literature- and data-mining approach
| ANNOTATION TERM CATEGORIES1 | |||
|---|---|---|---|
| Anatomical site | Biological Process | Phenotype | Animal model homology |
| Developmental | Development | Seizures | Phenotype |
| Liver | Transcription | Epilepsy | Behaviour/Neurological |
| Central nervous system | Metabolism | Acidosis | Nervous system related |
| Respiratory | Phosphorylation | Microcephaly | Embryogenesis |
| Cerebellum | Brain development | Tremor | |
| Kidney | Timing | ||
| Hippocampus | Pre-Embryonic | ||
| Spinal cord | Embryonic | ||
| Cerebral cortex | Fetal | ||
| Testis | |||
| Brain stem | Anatomy | ||
| Peripheral nerve | 2TS8-9 Ectoderm | ||
| Cerebrum | TS10-13 Neural Ectoderm | ||
| Substantia nigra | TS14-26 CNS | ||
| Cardiovascular | |||
| Adrenal gland | |||
| Thyroid | |||
| Ovary | |||
| Amygdala | |||
| Musculoskeletal | |||
| Ganglion | |||
| Hypothalamus | |||
1These terms were used to extract gene lists that were compared to all X chromosome genes in a binary filtering process. Annotation terms are divided into four categories based on their ontological classification.
2TS - Theiller stage: A term used to denote the stage of development of a mouse as described by Theiler in "The House Mouse: Atlas of Mouse Development" (Springer-Verlag, New York, 1989)