Skip to main content

Table 2 Enriched neuropathological pathways.

From: Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes

PATHWAY (Source Database)

Pathway

size

P-value

FWER P-value

Genes on HSA21

HSA21 Interactors

Others

HUNTINGTONS DISEASE (KEGG)

159

0

0

SOD1; DONSON

REST

BDNF; SOD2

ALZHEIMERS DISEASE (KEGG)

147

0

0

APP; BACE2; DONSON

PPP3CA; GSK3B

CAPN2

SIGNALLING BY NGF (REACTOME)

209

0

0

ITSN1; TIAM1

PIK3R1; GSK3B

RPS6KA2; RAP1A; KRAS

AXON GUIDANCE (REACTOME)

256

0

0

COL6A2

GSK3B;COL1A1; COL1A2; COL4A1; COL4A2

COL5A2; DPYSL3; RPS6KA2; LAMB1; COL3A1; COL5A1; ALCAM; KRAS

PARKINSONS DISEASE (KEGG)

105

0

0

DONSON

 

UBE2G2

P75(NTR)-MEDIATED SIGNALING (PID)

68

0

0

APP

PIK3R1

BDNF

NOTCH (NETPATH)

61

0

0

APP

PIK3R1; GSK3B

 

NEUROTROPHIN SIGNALING PATHWAY (KEGG)

121

0

0

 

PIK3R1; GSK3B

BDNF; RPS6KA2; RAP1A; KRAS

NGF SIGNALLING VIA TRKA FROM THE PLASMA MEMBRANE (REACTOME)

127

0

0

 

PIK3R1; GSK3B

RPS6KA2; RAP1A; KRAS

MEMBRANE TRAFFICKING (REACTOME)

87

0

0

 

TJP1

GJA1; COPG

NEUROTROPHIC FACTOR-MEDIATED TRK RECEPTOR SIGNALING (PID)

60

0

0

TIAM1

PIK3R1

BDNF; RAP1A; KRAS

EPO SIGNALING (INOH)

180

0

0

 

PIK3R1; GSK3B

 

CDC42 SIGNALING EVENTS (PID)

68

0

0

TIAM1

PIK3R1; GSK3B

EPS8; YES1

L1CAM INTERACTIONS (REACTOME)

93

0

0

  

LAMB1; ALCAM1; RPS6KA2