Skip to main content

Table 3 A selection of GO BP terms shared by the phenotypes in input after enrichment procedure

From: PhenPath: a tool for characterizing biological functions underlying different phenotypes

GO BP term

IC value

# of associated phenotypes

Associated phenotypes

Related genes associated with RTT

cellular component morphogenesis

5.4

6

microcephaly, sleep disturbance, scoliosis, breathing dysregulation, abnormality of coordination, specific learning disability

TCF4

Behavior

5.23

6

microcephaly, specific learning disability, sleep disturbance, scoliosis, abnormality of coordination, drooling

MECP2

cell projection organization

4.95

6

microcephaly, specific learning disability, scoliosis, breathing dysregulation, abnormality of coordination, sleep disturbance

MECP2

neurological system process

4.65

6

microcephaly, specific learning disability, scoliosis, abnormality of coordination, sleep disturbance, drooling

FOXG1, MECP2

system development

4.75

5

microcephaly, sleep disturbance, scoliosis, abnormality of coordination, severe expressive language delay

TCF4, FOXG1, MECP2

anatomical structure formation involved in morphogenesis

4.69

5

microcephaly, specific learning disability, scoliosis, breathing dysregulation, abnormality of coordination

TCF4, FOXG1

single-organism behavior

5.67

5

microcephaly, sleep disturbance, scoliosis, abnormality of coordination, drooling

TCF4, MECP2