Table 6

Comparison of the terms in cluster e found by Chaussabel and Sher [6] with those found by TXTGate (OMIM vocabulary)

Gene symbol
Cluster terms in Chaussabel and Sher [6].
Terms from TXTGate

Cluster e


CKB
Population
deaminas
AMPD3
Frequency
lipoprotein_lipas
ADA
Allele
creatin
ADORA2A
Unrelated
lipoprotein
ADORA3
Families
krabb
P2RX
Recessive
epidermolysi_bullosa
P2RX1
Autosomal
alagil
P2RX7
Disorder
bear
GEM
Severe
leukodystrophi
ARHH
Patient
receptor
LPL
Deficiency
down
CD36L1

corneal_dystrophi
LDLR

deaf
BF

hdl
GALC

nucleosid
LAMB3

retinoblastoma
GJB2

junction
TGFBI

adhesion
JAG1

congenit_heart_defect
DSCR1

hear_loss

The diversity of the diseases the member genes are related to makes the relevant terms display high variance, rather than high mean. The terms that were also found by Chaussabel and Sher [6] after manual investigation are marked in bold. Complete data can be found in Additional data file 2.

Glenisson et al. Genome Biology 2004 5:R43   doi:10.1186/gb-2004-5-6-r43

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