mutation
→
HasProperty
→
random
|
0.77
|
|
effect
(aspect of
mutation)
→
HasProperty
→
specific
|
0.74
|
|
mutation
→
HasProperty
→
neutral
|
0.74
|
|
mutation
→
HasProperty
→
rare
|
0.73
|
|
mutation
→
IsA
→
change
|
0.72
|
|
mutation
→
HasProperty
→
harmful
|
0.69
|
|
mutation
→
HasProperty
→
heterozygous
|
0.68
|
|
genetic variation
(subgroup of
mutation)
→
HasProperty
→
random
|
0.68
|
|
spontaneous mutation
(subgroup of
mutation)
→
HasProperty
→
rare
|
0.68
|
|
power
(aspect of
mutation)
→
CapableOf
→
detect association
|
0.68
|
|
power
(aspect of
mutation)
→
CapableOf
→
detect selection
|
0.68
|
|
effect
(aspect of
mutation)
→
HasProperty
→
unknown
|
0.67
|
|
mutation
→
ReceivesAction
→
inherited
|
0.66
|
|
mutation
→
ReceivesAction
→
shown in table
|
0.66
|
|
effect
(aspect of
mutation)
→
HasProperty
→
small
|
0.66
|
|
mutation
→
HasProperty
→
common
|
0.66
|
|
mutation
→
ReceivesAction
→
associated with resistance
|
0.66
|
|
mutation
→
HasProperty
→
novel
|
0.65
|
|
mutation
→
Causes
→
reduction
|
0.65
|
|
mutation
→
HasProperty
→
somatic
|
0.64
|
|
mutation
→
HasProperty
→
deleterious
|
0.64
|
|
mutation
→
HasProperty
→
beneficial
|
0.64
|
|
mutation
→
HasProperty
→
prevalent
|
0.64
|
|
mutation
→
HasSubevent
→
cancer
|
0.63
|
|
mutation
→
ReceivesAction
→
confirmed
|
0.63
|
|
mutation
→
HasA
→
little effect
|
0.63
|
|
mutation
→
AtLocation
→
patient
|
0.63
|
|
new mutation
(subgroup of
mutation)
→
ReceivesAction
→
identified
|
0.63
|
|
mutation
→
ReceivesAction
→
selected
|
0.63
|
|
mutation
→
HasProperty
→
identical
|
0.62
|
|
mutation
→
HasProperty
→
unique
|
0.62
|
|
mutation
→
Causes
→
disease
|
0.62
|
|
effect
(aspect of
mutation)
→
HasProperty
→
additive
|
0.62
|
|
mutation
→
CapableOf
→
occur in exon
|
0.62
|
|
mutation
→
HasA
→
effect
|
0.62
|
|
mutation
→
ReceivesAction
→
confirmed by dna sequencing
|
0.62
|
|
mutation
→
IsA
→
permanent change
|
0.61
|
|
mutation
→
HasProperty
→
recessive
|
0.61
|
|
mutation
→
ReceivesAction
→
confirmed by sanger sequencing
|
0.61
|
|
mutation
→
ReceivesAction
→
associated with disease
|
0.61
|
|
mutation
→
ReceivesAction
→
tested
|
0.61
|
|
mutation
→
CapableOf
→
occur in codon
|
0.59
|
|
mutation
→
ReceivesAction
→
favored by natural selection
|
0.59
|
|
mutation
→
HasA
→
same effect
|
0.59
|
|
mutation
→
Causes
→
cystic fibrosis
|
0.59
|
|
mutation
→
HasProperty
→
good
|
0.59
|
|
mutation
→
ReceivesAction
→
identified
|
0.58
|
|
mutation
→
ReceivesAction
→
distributed
|
0.58
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
tested
|
0.58
|
|
mutation
→
CapableOf
→
occur in gene
|
0.58
|
|
mutation
→
HasA
→
minor effect
|
0.58
|
|
mutation
→
HasProperty
→
dominant
|
0.58
|
|
mutation
→
CapableOf
→
produce protein
|
0.58
|
|
mutation
→
CapableOf
→
change single protein building blocks
|
0.58
|
|
mutation
→
ReceivesAction
→
detected
|
0.58
|
|
effect
(aspect of
mutation)
→
HasProperty
→
more pronounced
|
0.58
|
|
mutation
→
ReceivesAction
→
removed
|
0.58
|
|
effect
(aspect of
mutation)
→
HasProperty
→
reversible
|
0.57
|
|
mutation
→
CapableOf
→
occur by chance
|
0.57
|
|
mutation
→
ReceivesAction
→
verified
|
0.57
|
|
mutation
→
ReceivesAction
→
identified in patient
|
0.57
|
|
mutation
→
HasSubevent
→
amino acid substitutions
|
0.57
|
|
mutation
→
ReceivesAction
→
reported
|
0.57
|
|
effect
(aspect of
mutation)
→
HasProperty
→
significant
|
0.57
|
|
cancer
→
HasA
→
mutation
|
0.57
|
|
mutation
→
HasProperty
→
adaptive
|
0.57
|
|
mutation
→
HasProperty
→
silent
|
0.57
|
|
power
(aspect of
mutation)
→
CapableOf
→
detect gene
|
0.56
|
|
mutation
→
HasProperty
→
pathogenic
|
0.56
|
|
mutation
→
AtLocation
→
tumor
|
0.56
|
|
mutation
→
HasProperty
→
homozygous
|
0.56
|
|
mutation
→
ReceivesAction
→
linked to breast cancer
|
0.56
|
|
mutation
→
HasProperty
→
actionable
|
0.56
|
|
mutation
→
AtLocation
→
cancer
|
0.56
|
|
beneficial mutation
(subgroup of
mutation)
→
HasProperty
→
rare
|
0.56
|
|
sequence
→
HasA
→
mutation
|
0.56
|
|
mutation
→
AtLocation
→
people
|
0.56
|
|
mutation
→
HasProperty
→
lethal
|
0.56
|
|
mutation
→
ReceivesAction
→
studied
|
0.56
|
|
mutation
→
HasA
→
significant effect
|
0.55
|
|
effect
(aspect of
mutation)
→
HasProperty
→
modest
|
0.55
|
|
mutation
→
CapableOf
→
occur in fact
|
0.55
|
|
mutation
→
Causes
→
frameshift
|
0.55
|
|
mutation
→
ReceivesAction
→
caused by mutagen
|
0.55
|
|
mutation
→
ReceivesAction
→
generated by site-directed mutagenesis
|
0.55
|
|
mutation
→
HasA
→
impact
|
0.55
|
|
mutation
→
HasSubevent
→
amino acid changes
|
0.55
|
|
mutation
→
HasProperty
→
negative
|
0.55
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
determined
|
0.55
|
|
mutation
→
ReceivesAction
→
shown
|
0.55
|
|
mutation
→
AtLocation
→
melanoma
|
0.55
|
|
mutation
→
HasProperty
→
harmless
|
0.55
|
|
mutation
→
ReceivesAction
→
likely to occur
|
0.55
|
|
mutation
→
AtLocation
→
child
|
0.54
|
|
mutation
→
HasProperty
→
abundant
|
0.54
|
|
mutation
→
HasProperty
→
more frequent
|
0.54
|
|
sample
→
HasA
→
mutation
|
0.54
|
|
mutation
→
HasProperty
→
important
|
0.54
|
|
somatic mutation
(subgroup of
mutation)
→
AtLocation
→
cancer
|
0.54
|
|
somatic mutation
(subgroup of
mutation)
→
HasProperty
→
rare
|
0.54
|
|
mutation
→
ReceivesAction
→
described
|
0.54
|
|
mutation
→
CapableOf
→
accumulate over time
|
0.54
|
|
mutation
→
CapableOf
→
drive carcinogenesis
|
0.54
|
|
mutation
→
CapableOf
→
enable mutant organism
|
0.54
|
|
mutation
→
ReceivesAction
→
passed on to offspring
|
0.54
|
|
mutation
→
CapableOf
→
encode protein
|
0.54
|
|
somatic mutation
(subgroup of
mutation)
→
ReceivesAction
→
identified
|
0.53
|
|
mutation
→
HasSubevent
→
cancer development
|
0.53
|
|
effect
(aspect of
mutation)
→
HasProperty
→
transient
|
0.53
|
|
mutation
→
CapableOf
→
change amino acid
|
0.53
|
|
mutation
→
HasProperty
→
small
|
0.53
|
|
mutation
→
HasProperty
→
possible
|
0.53
|
|
mutation
→
CapableOf
→
induce conformational change
|
0.53
|
|
gene
→
HasA
→
mutation
|
0.53
|
|
mutation
→
HasProperty
→
helpful
|
0.53
|
|
mutation
→
HasProperty
→
bad
|
0.53
|
|
mutation
→
HasSubevent
→
evolution
|
0.53
|
|
mutation
→
ReceivesAction
→
associated with cancer
|
0.53
|
|
mutation
→
HasProperty
→
specific
|
0.52
|
|
mutation
→
CapableOf
→
occur at same site
|
0.52
|
|
mutation
→
ReceivesAction
→
inherited in autosomal dominant manner
|
0.52
|
|
mutation
→
CapableOf
→
occur in the dna
|
0.52
|
|
mutation
→
HasProperty
→
less frequent
|
0.52
|
|
mutation
→
CapableOf
→
affect the gene
|
0.52
|
|
mutation
→
CapableOf
→
replace the amino acid arginine
|
0.52
|
|
mutation
→
ReceivesAction
→
discovered
|
0.52
|
|
mutation
→
ReceivesAction
→
reported in patient
|
0.52
|
|
mutation
→
ReceivesAction
→
associated with drug resistance
|
0.52
|
|
mutation
→
CapableOf
→
affect splicing
|
0.52
|
|
frameshift mutation
(subgroup of
mutation)
→
ReceivesAction
→
observed
|
0.52
|
|
mutation
→
CapableOf
→
occur
|
0.51
|
|
mutation
→
ReceivesAction
→
associated with aml
|
0.51
|
|
mutation
→
HasProperty
→
positive
|
0.51
|
|
mutation
→
ReceivesAction
→
described in the literature
|
0.51
|
|
mutation
→
CapableOf
→
affect activity
|
0.51
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
mediated in part
|
0.51
|
|
mutation
→
ReceivesAction
→
associated with the disease
|
0.51
|
|
mutation
→
HasSubevent
→
a premature stop codon
|
0.51
|
|
mutation
→
HasProperty
→
causative
|
0.51
|
|
mutation
→
HasSubevent
→
increase
|
0.51
|
|
mutation
→
ReceivesAction
→
detected by direct sequencing
|
0.51
|
|
mutation
→
AtLocation
→
combination
|
0.51
|
|
mutation
→
CapableOf
→
use quikchange site-directed mutagenesis kit
|
0.51
|
|
mutation
→
CapableOf
→
occur in each generation
|
0.51
|
|
mutation
→
HasA
→
profound effects
|
0.51
|
|
mutation
→
HasProperty
→
unstable
|
0.50
|
|
mutation
→
HasA
→
consequence
|
0.50
|
|
mutation
→
ReceivesAction
→
corrected
|
0.50
|
|
mutation
→
CapableOf
→
affect the brain
|
0.50
|
|
mutation
→
AtLocation
→
single family
|
0.50
|
|
mutation
→
ReceivesAction
→
tolerated
|
0.50
|
|
mutation
→
HasProperty
→
necessary
|
0.50
|
|
mutation
→
ReceivesAction
→
identified in tumor
|
0.50
|
|
mutation
→
HasSubevent
→
shift
|
0.50
|
|
mutation
→
ReceivesAction
→
reversed
|
0.50
|
|
mutation
→
ReceivesAction
→
traced
|
0.50
|
|
mutation
→
ReceivesAction
→
identified by wes
|
0.50
|
|
mutation
→
HasSubevent
→
premature stop
|
0.50
|
|
mutation
→
CapableOf
→
replace the amino acid glycine
|
0.50
|
|
mutation
→
CapableOf
→
become fixed in population
|
0.50
|
|
effect
(aspect of
mutation)
→
HasProperty
→
indirect
|
0.49
|
|
mutation
→
CapableOf
→
occur in nature
|
0.49
|
|
mutation
→
CapableOf
→
increase in frequency
|
0.49
|
|
mutation
→
HasSubevent
→
genomic instability
|
0.49
|
|
male
→
HasA
→
mutation
|
0.49
|
|
mutation
→
HasProperty
→
treatable
|
0.49
|
|
mutation
→
ReceivesAction
→
linked to pd
|
0.49
|
|
mutation
→
ReceivesAction
→
confirmed by pcr
|
0.49
|
|
mutation
→
ReceivesAction
→
taken into account
|
0.49
|
|
mutation
→
HasA
→
deleterious effects
|
0.49
|
|
effect
(aspect of
mutation)
→
HasProperty
→
weaker
|
0.49
|
|
mutation
→
ReceivesAction
→
introduced
|
0.49
|
|
mutation
→
CapableOf
→
occur within gene
|
0.49
|
|
mutation
→
Causes
→
a loss of information
|
0.49
|
|
mutation
→
ReceivesAction
→
associated with autism
|
0.49
|
|
mutation
→
CapableOf
→
occur in region
|
0.49
|
|
mutation
→
CapableOf
→
produce new alleles
|
0.48
|
|
mutation
→
CapableOf
→
affect embryogenesis
|
0.48
|
|
mutation
→
AtLocation
→
primary tumor
|
0.48
|
|
mutation
→
HasProperty
→
biallelic
|
0.48
|
|
mutation
→
AtLocation
→
cancer cells
|
0.48
|
|
mutation
→
CapableOf
→
increase the risk
|
0.48
|
|
mutation
→
CapableOf
→
occur after birth
|
0.48
|
|
mutation
→
CapableOf
→
replace the amino acid leucine
|
0.48
|
|
mutation
→
CapableOf
→
occur in family
|
0.48
|
|
mutation
→
HasProperty
→
clonal
|
0.48
|
|
mutation
→
HasProperty
→
advantageous
|
0.48
|
|
mutation
→
Causes
→
loss of function
|
0.48
|
|
mutation
→
ReceivesAction
→
linked to breast
|
0.48
|
|
mutation
→
ReceivesAction
→
added
|
0.48
|
|
mutation
→
ReceivesAction
→
predicted to be deleterious
|
0.48
|
|
mutation
→
Causes
→
rp
|
0.48
|
|
mutation
→
HasSubevent
→
truncated protein
|
0.48
|
|
effect
(aspect of
mutation)
→
HasProperty
→
consistent
|
0.48
|
|
mutation
→
HasProperty
→
heritable
|
0.48
|
|
mutation
→
AtLocation
→
family
|
0.48
|
|
mutation
→
AtLocation
→
gene
|
0.47
|
|
mutation
→
HasProperty
→
invisible
|
0.47
|
|
mutation
→
CapableOf
→
destabilize the protein
|
0.47
|
|
mutation
→
ReceivesAction
→
removed by natural selection
|
0.47
|
|
mutation
→
ReceivesAction
→
identified to date
|
0.47
|
|
effect
(aspect of
mutation)
→
HasProperty
→
stronger
|
0.47
|
|
mutation
→
ReceivesAction
→
described in methods
|
0.47
|
|
mutation
→
ReceivesAction
→
confirmed by dna sequence analysis
|
0.47
|
|
effect
(aspect of
mutation)
→
HasProperty
→
complex
|
0.47
|
|
effect
(aspect of
mutation)
→
HasProperty
→
dependent
|
0.47
|
|
mutation
→
AtLocation
→
glioblastoma
|
0.47
|
|
mutation
→
HasProperty
→
uncommon
|
0.47
|
|
effect
(aspect of
mutation)
→
HasProperty
→
direct
|
0.47
|
|
mutation
→
HasProperty
→
disadvantageous
|
0.47
|
|
mutation
→
CapableOf
→
affect the phenotype
|
0.46
|
|
mutation
→
ReceivesAction
→
associated to date
|
0.46
|
|
mutation
→
ReceivesAction
→
associated with inh resistance
|
0.46
|
|
mutation
→
ReceivesAction
→
associated with hearing loss
|
0.46
|
|
mutation
→
ReceivesAction
→
described to date
|
0.46
|
|
mutation
→
CapableOf
→
affect gene expression
|
0.46
|
|
effect
(aspect of
mutation)
→
HasProperty
→
strong
|
0.46
|
|
mutation
→
ReceivesAction
→
clustered in exon
|
0.46
|
|
mutation
→
HasA
→
negative effect
|
0.46
|
|
mutation
→
HasProperty
→
the most common
|
0.46
|
|
mutation
→
Causes
→
condition
|
0.46
|
|
mutation
→
CapableOf
→
refer to change
|
0.46
|
|
mutation
→
CapableOf
→
change single dna building block
|
0.46
|
|
mutation
→
CapableOf
→
confer advantage
|
0.46
|
|
mutation
→
CapableOf
→
affect dna repair
|
0.46
|
|
mutation
→
HasA
→
neutral effect
|
0.46
|
|
mutation
→
CapableOf
→
occur in cell
|
0.45
|
|
mutation
→
ReceivesAction
→
fixed
|
0.45
|
|
mutation
→
HasProperty
→
destructive
|
0.45
|
|
mutation
→
HasProperty
→
inconsequential
|
0.45
|
|
mutation
→
CapableOf
→
break gene
|
0.45
|
|
mutation
→
CapableOf
→
activate the kinase
|
0.45
|
|
mutation
→
ReceivesAction
→
common in the ashkenazi population
|
0.45
|
|
mutation
→
CapableOf
→
copy error
|
0.45
|
|
mutation
→
HasSubevent
→
altered molecular function
|
0.45
|
|
mutation
→
ReceivesAction
→
taken per four mutator levels
|
0.45
|
|
mutation
→
CapableOf
→
alter the amino acid sequence
|
0.45
|
|
mutation
→
CapableOf
→
change protein
|
0.45
|
|
mutation
→
ReceivesAction
→
correlated with ovarian cancer
|
0.45
|
|
mutation
→
ReceivesAction
→
lost
|
0.45
|
|
mutation
→
CapableOf
→
become more common
|
0.45
|
|
mutation
→
ReceivesAction
→
caused by radiation
|
0.45
|
|
mutation
→
ReceivesAction
→
associated with sensitivity
|
0.45
|
|
cancer cell
→
HasA
→
mutation
|
0.45
|
|
effect
(aspect of
mutation)
→
HasProperty
→
evident
|
0.45
|
|
mutation
→
ReceivesAction
→
observed
|
0.44
|
|
mutation
→
ReceivesAction
→
implicated
|
0.44
|
|
mutation
→
ReceivesAction
→
linked to schizophrenia
|
0.44
|
|
mutation
→
HasProperty
→
complex
|
0.44
|
|
effect
(aspect of
mutation)
→
HasProperty
→
visible
|
0.44
|
|
mutation
→
ReceivesAction
→
eliminated
|
0.44
|
|
mutation
→
ReceivesAction
→
identified in people
|
0.44
|
|
mutation
→
HasA
→
different effects
|
0.44
|
|
mutation
→
ReceivesAction
→
linked
|
0.44
|
|
mutation
→
HasProperty
→
concordant
|
0.44
|
|
mutation
→
ReceivesAction
→
predicted to be damaging
|
0.44
|
|
mutation
→
ReceivesAction
→
associated with mild phenotype
|
0.44
|
|
sequence
(aspect of
gene)
→
HasA
→
mutation
|
0.44
|
|
mutation
→
Causes
→
syndrome
|
0.44
|
|
mutation
→
HasProperty
→
nonsynonymous
|
0.44
|
|
mutation
→
CapableOf
→
occur at same time
|
0.44
|
|
mutation
→
ReceivesAction
→
confirmed by bidirectional sequencing
|
0.44
|
|
mutation
→
ReceivesAction
→
validated by sanger
|
0.44
|
|
mutation
→
Causes
→
mo
|
0.44
|
|
mutation
→
ReceivesAction
→
listed in additional file
|
0.44
|
|
mutation
→
ReceivesAction
→
detected by the kit
|
0.44
|
|
mutation
→
ReceivesAction
→
excluded
|
0.44
|
|
effect
(aspect of
mutation)
→
HasProperty
→
negative
|
0.44
|
|
mutation
→
ReceivesAction
→
rejected
|
0.44
|
|
mutation
→
Causes
→
hypertrophic cardiomyopathy
|
0.43
|
|
beneficial mutation
(subgroup of
mutation)
→
CapableOf
→
spread through population
|
0.43
|
|
mutation
→
HasProperty
→
causal
|
0.43
|
|
mutation
→
HasProperty
→
unknown
|
0.43
|
|
mutation
→
CapableOf
→
occur for first time
|
0.43
|
|
mutation
→
CapableOf
→
use sanger sequencing
|
0.43
|
|
mutation
→
HasProperty
→
homoplasmic
|
0.43
|
|
mutation
→
HasProperty
→
additive
|
0.43
|
|
mutation
→
CapableOf
→
cause genetic disease
|
0.43
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
observed
|
0.43
|
|
somatic mutation
(subgroup of
mutation)
→
AtLocation
→
pik3ca
|
0.43
|
|
power
(aspect of
mutation)
→
HasProperty
→
low
|
0.43
|
|
mutation
→
CapableOf
→
interact with each other
|
0.43
|
|
mutation
→
CapableOf
→
affect the structure
|
0.43
|
|
mutation
→
CapableOf
→
contribute to tumorigenesis
|
0.43
|
|
mutation
→
CapableOf
→
occur in sperm
|
0.43
|
|
mutation
→
HasProperty
→
conservative
|
0.42
|
|
mutation
→
CapableOf
→
replace the amino acid tyrosine
|
0.42
|
|
mutation
→
ReceivesAction
→
maintained in the population
|
0.42
|
|
mutation
→
AtLocation
→
exon
|
0.42
|
|
mutation
→
HasProperty
→
infrequent
|
0.42
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
reduced
|
0.42
|
|
effect
(aspect of
mutation)
→
HasProperty
→
large
|
0.42
|
|
effect
(aspect of
mutation)
→
HasProperty
→
mild
|
0.42
|
|
mutation
→
ReceivesAction
→
detected at high frequency
|
0.42
|
|
mutation
→
AtLocation
→
codon
|
0.42
|
|
mutation
→
ReceivesAction
→
involved in different families
|
0.42
|
|
mutation
→
CapableOf
→
disrupt open reading frame
|
0.42
|
|
mutation
→
ReceivesAction
→
written
|
0.42
|
|
mutation
→
ReceivesAction
→
associated with dwarfism
|
0.42
|
|
mutation
→
Causes
→
severe phenotype
|
0.42
|
|
mutation
→
HasProperty
→
sporadic
|
0.42
|
|
mutation
→
ReceivesAction
→
caused by dna damage
|
0.42
|
|
mutation
→
ReceivesAction
→
passed to child
|
0.42
|
|
mutation
→
CapableOf
→
contribute to progression
|
0.42
|
|
mutation
→
CapableOf
→
predispose individual
|
0.42
|
|
mutation
→
CapableOf
→
affect protein function
|
0.42
|
|
mutation
→
Causes
→
retinitis pigmentosa
|
0.42
|
|
mutation
→
CapableOf
→
spread through the population
|
0.41
|
|
mutation
→
ReceivesAction
→
underlined
|
0.41
|
|
mutation
→
CapableOf
→
confer selective advantage
|
0.41
|
|
mutation
→
HasA
→
beneficial effects
|
0.41
|
|
effect
(aspect of
mutation)
→
HasProperty
→
variable
|
0.41
|
|
mutation
→
HasSubevent
→
failure
|
0.41
|
|
mutation
→
HasSubevent
→
muscle weakness
|
0.41
|
|
mutation
→
CapableOf
→
harm the organism
|
0.41
|
|
mutation
→
ReceivesAction
→
associated with starting protein
|
0.41
|
|
mutation
→
CapableOf
→
reduce the strength
|
0.41
|
|
mutation
→
CapableOf
→
disrupt oligomerization
|
0.41
|
|
mutation
→
HasProperty
→
undirected
|
0.41
|
|
mutation
→
ReceivesAction
→
confirmed to be somatic
|
0.41
|
|
mutation
→
ReceivesAction
→
associated with fmf
|
0.41
|
|
new mutation
(subgroup of
mutation)
→
CapableOf
→
arise in the population
|
0.41
|
|
mutation
→
ReceivesAction
→
passed on to future generations
|
0.41
|
|
mutation
→
CapableOf
→
go undetected
|
0.41
|
|
mutation
→
CapableOf
→
go unnoticed
|
0.41
|
|
mutation
→
ReceivesAction
→
noted in red
|
0.41
|
|
mutation
→
HasProperty
→
epistatic
|
0.41
|
|
mutation
→
CapableOf
→
promote tumor growth
|
0.41
|
|
mutation
→
CapableOf
→
change single amino acids
|
0.41
|
|
mutation
→
CapableOf
→
produce new species
|
0.41
|
|
mutation
→
HasProperty
→
heterogeneous
|
0.41
|
|
mutation
→
Causes
→
albinism
|
0.41
|
|
mutation
→
ReceivesAction
→
caused by transposon
|
0.41
|
|
mutation
→
ReceivesAction
→
identified in gene
|
0.41
|
|
mutation
→
CapableOf
→
occur in hotspot,of a gene
|
0.41
|
|
mutation
→
CapableOf
→
enter the population
|
0.41
|
|
mutation
→
HasProperty
→
key
|
0.40
|
|
mutation
→
HasProperty
→
hereditary
|
0.40
|
|
mutation
→
ReceivesAction
→
passed
|
0.40
|
|
mutation
→
Causes
→
cell death
|
0.40
|
|
effect
(aspect of
mutation)
→
HasProperty
→
important
|
0.40
|
|
mutation
→
ReceivesAction
→
seen in our cohort
|
0.40
|
|
mutation
→
CapableOf
→
occur at steady rate
|
0.40
|
|
mutation
→
ReceivesAction
→
missed
|
0.40
|
|
mutation
→
HasSubevent
→
significant reduction
|
0.40
|
|
mutation
→
ReceivesAction
→
recognized
|
0.40
|
|
mutation
→
Causes
→
death
|
0.40
|
|
mutation
→
ReceivesAction
→
accumulated
|
0.40
|
|
mutation
→
Causes
→
rett syndrome
|
0.40
|
|
mutation
→
ReceivesAction
→
induced by bcnu
|
0.40
|
|
mutation
→
CapableOf
→
kill the organism
|
0.40
|
|
mutation
→
HasSubevent
→
misfolding
|
0.40
|
|
mutation
→
Causes
→
symptom
|
0.40
|
|
mutation
→
CapableOf
→
cause severe disease
|
0.40
|
|
mutation
→
CapableOf
→
report to date
|
0.40
|
|
mutation
→
ReceivesAction
→
present in parent
|
0.39
|
|
mutation
→
CapableOf
→
reduce enzyme activity
|
0.39
|
|
mutation
→
HasSubevent
→
variation
|
0.39
|
|
mutation
→
CapableOf
→
support the notion
|
0.39
|
|
mutation
→
Causes
→
duchenne muscular dystrophy
|
0.39
|
|
mutation
→
ReceivesAction
→
induced by acnu
|
0.39
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
limited
|
0.39
|
|
effect
(aspect of
mutation)
→
HasProperty
→
greater
|
0.39
|
|
effect
(aspect of
mutation)
→
HasProperty
→
less pronounced
|
0.39
|
|
mutation
→
HasSubevent
→
different phenotypes
|
0.39
|
|
dna
→
Causes
→
mutation
|
0.39
|
|
mutation
→
ReceivesAction
→
reported in individual
|
0.39
|
|
mutation
→
AtLocation
→
region
|
0.39
|
|
mutation
→
AtLocation
→
brca1
|
0.39
|
|
mutation
→
CapableOf
→
confer a growth advantage
|
0.39
|
|
mutation
→
CapableOf
→
activate a cryptic splice donor site
|
0.39
|
|
mutation
→
CapableOf
→
occur in individual
|
0.39
|
|
mutation
→
Causes
→
significant changes
|
0.39
|
|
mutation
→
CapableOf
→
occur in somatic cells
|
0.39
|
|
mutation
→
CapableOf
→
affect only one allele
|
0.39
|
|
mutation
→
Causes
→
beta-thalassemia
|
0.39
|
|
mutation
→
HasSubevent
→
protein
|
0.39
|
|
protein
→
HasA
→
mutation
|
0.39
|
|
mutation
→
ReceivesAction
→
caused by virus
|
0.39
|
|
mutation
→
ReceivesAction
→
required to cause disease
|
0.38
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
discussed
|
0.38
|
|
mutation
→
ReceivesAction
→
common in general population
|
0.38
|
|
beneficial mutation
(subgroup of
mutation)
→
CapableOf
→
reach fixation
|
0.38
|
|
mutation
→
Causes
→
tumor
|
0.38
|
|
mutation
→
CapableOf
→
occur in kras
|
0.38
|
|
mutation
→
ReceivesAction
→
identified in 2014
|
0.38
|
|
mutation
→
AtLocation
→
inh-resistant strains
|
0.38
|
|
mutation
→
AtLocation
→
cll
|
0.38
|
|
mutation
→
ReceivesAction
→
caused by favipiravir
|
0.38
|
|
mutation
→
HasSubevent
→
mutant
|
0.38
|
|
mutation
→
CapableOf
→
show incomplete penetrance
|
0.38
|
|
mutation
→
HasProperty
→
hypomorphic
|
0.38
|
|
genetic variation
(subgroup of
mutation)
→
HasProperty
→
neutral
|
0.38
|
|
effect
(aspect of
mutation)
→
HasProperty
→
local
|
0.38
|
|
organism
→
HasA
→
mutation
|
0.38
|
|
mutation
→
Causes
→
parkinson’s disease
|
0.38
|
|
mutation
→
Causes
→
disorder
|
0.38
|
|
mutation
→
CapableOf
→
contribute to disease
|
0.38
|
|
mutation
→
HasProperty
→
interesting
|
0.38
|
|
mutation
→
ReceivesAction
→
mapped to chromosome
|
0.38
|
|
mutation
→
CapableOf
→
affect transcription
|
0.38
|
|
mutation
→
ReceivesAction
→
likely to lead
|
0.38
|
|
mutation
→
CapableOf
→
set the stage
|
0.38
|
|
mutation
→
ReceivesAction
→
associated with congenital cataracts
|
0.38
|
|
mutation
→
HasA
→
opposite effect
|
0.38
|
|
mutation
→
HasProperty
→
significant
|
0.38
|
|
mutation
→
HasProperty
→
allelic
|
0.38
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
difficult to quantify
|
0.38
|
|
mutation
→
CapableOf
→
affect conserved residues
|
0.37
|
|
mutation
→
ReceivesAction
→
implicated in human
|
0.37
|
|
mutation
→
CapableOf
→
affect behavior
|
0.37
|
|
mutation
→
ReceivesAction
→
linked to leukemia
|
0.37
|
|
effect
(aspect of
mutation)
→
HasProperty
→
dramatic
|
0.37
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
reversed
|
0.37
|
|
mutation
→
ReceivesAction
→
identified in lung adenocarcinomas
|
0.37
|
|
mutation
→
AtLocation
→
gastric cancer
|
0.37
|
|
mutation
→
CapableOf
→
occur in the genome
|
0.37
|
|
mutation
→
HasProperty
→
widespread
|
0.37
|
|
mutation
→
CapableOf
→
occur in intron
|
0.37
|
|
mutation
→
CapableOf
→
occur in egg
|
0.37
|
|
mutation
→
ReceivesAction
→
shared
|
0.37
|
|
effect
(aspect of
mutation)
→
HasProperty
→
subtle
|
0.36
|
|
mutation
→
ReceivesAction
→
inherited in autosomal recessive pattern
|
0.36
|
|
mutation
→
CapableOf
→
confer proliferative advantage
|
0.36
|
|
mutation
→
CapableOf
→
increase life span
|
0.36
|
|
mutation
→
HasProperty
→
protective
|
0.36
|
|
mutation
→
HasProperty
→
dangerous
|
0.36
|
|
mutation
→
ReceivesAction
→
associated with alzheimer's disease
|
0.36
|
|
radiation
→
Causes
→
mutation
|
0.36
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
shown
|
0.36
|
|
mutation
→
CapableOf
→
cause human disease
|
0.36
|
|
mutation
→
HasSubevent
→
neurodegeneration
|
0.36
|
|
mutation
→
CapableOf
→
affect pathogenesis
|
0.35
|
|
mutation
→
AtLocation
→
population
|
0.35
|
|
mutation
→
CapableOf
→
prevent phosphorylation
|
0.35
|
|
mutation
→
HasSubevent
→
sickle cell anemia
|
0.35
|
|
mutation
→
ReceivesAction
→
associated with condition
|
0.35
|
|
mutation
→
ReceivesAction
→
located on long arm of chromosome
|
0.35
|
|
mutation
→
CapableOf
→
occur in the germ cells
|
0.35
|
|
mutation
→
ReceivesAction
→
common in other tumor types
|
0.35
|
|
mutation
→
HasProperty
→
responsive
|
0.35
|
|
mutation
→
CapableOf
→
cause rare disease
|
0.35
|
|
mutation
→
ReceivesAction
→
associated with lymphedema
|
0.35
|
|
mutation
→
CapableOf
→
affect protein stability
|
0.35
|
|
mutation
→
Causes
→
less generation of asl(l-23
|
0.35
|
|
mutation
→
CapableOf
→
activate oncogene
|
0.35
|
|
mutation
→
ReceivesAction
→
associated with poor prognosis
|
0.35
|
|
mutation
→
HasA
→
apparent effect
|
0.35
|
|
mutation
→
CapableOf
→
create premature stop signal
|
0.35
|
|
mutation
→
ReceivesAction
→
associated with other cancers
|
0.35
|
|
mutation
→
ReceivesAction
→
identified in proband
|
0.35
|
|
mutation
→
CapableOf
→
occur in specific location
|
0.35
|
|
mutation
→
HasSubevent
→
elongated fruit
|
0.35
|
|
mutation
→
Causes
→
amyotrophic lateral sclerosis
|
0.35
|
|
mutation
→
ReceivesAction
→
identified in atm
|
0.34
|
|
mutation
→
ReceivesAction
→
distributed throughout the gene
|
0.34
|
|
mutation
→
ReceivesAction
→
associated with prostate
|
0.34
|
|
mutation
→
HasProperty
→
most likely
|
0.34
|
|
mutation
→
HasProperty
→
informative
|
0.34
|
|
mutation
→
ReceivesAction
→
associated with poorer outcomes
|
0.34
|
|
mutation
→
CapableOf
→
accumulate with age
|
0.34
|
|
mutation
→
CapableOf
→
inactivate gene
|
0.34
|
|
mutation
→
CapableOf
→
use primer
|
0.34
|
|
mutation
→
CapableOf
→
change the length of the fragment
|
0.34
|
|
mutation
→
CapableOf
→
do same thing
|
0.34
|
|
mutation
→
HasProperty
→
undetectable
|
0.34
|
|
mutation
→
AtLocation
→
nlrp3
|
0.34
|
|
mutation
→
CapableOf
→
affect mrna stability
|
0.34
|
|
mutation
→
HasA
→
detectable effect
|
0.34
|
|
mutation
→
ReceivesAction
→
shown in fig
|
0.34
|
|
mutation
→
HasA
→
benefit
|
0.34
|
|
mutation
→
Causes
→
autosomal recessive juvenile parkinsonism
|
0.34
|
|
mutation
→
HasProperty
→
simple
|
0.34
|
|
mutation
→
ReceivesAction
→
informative to identify and classify ancient populations
|
0.34
|
|
mutation
→
Causes
→
autosomal dominant retinitis pigmentosa
|
0.34
|
|
mutation
→
Causes
→
x-linked mental retardation
|
0.34
|
|
effect
(aspect of
mutation)
→
HasProperty
→
positive
|
0.34
|
|
effect
(aspect of
mutation)
→
HasProperty
→
varied
|
0.34
|
|
effect
(aspect of
mutation)
→
HasProperty
→
less clear
|
0.34
|
|
effect
(aspect of
mutation)
→
HasProperty
→
secondary
|
0.34
|
|
effect
(aspect of
mutation)
→
HasProperty
→
weak
|
0.34
|
|
mutation
→
ReceivesAction
→
caused by chemical
|
0.34
|
|
mutation
→
HasSubevent
→
mitochondrial dysfunction
|
0.34
|
|
mutation
→
Causes
→
familial amyotrophic lateral sclerosis
|
0.34
|
|
mutation
→
AtLocation
→
other genes
|
0.34
|
|
mutation
→
ReceivesAction
→
expected
|
0.34
|
|
mutation
→
Causes
→
hemophilia
|
0.34
|
|
mutation
→
CapableOf
→
affect cell size
|
0.34
|
|
mutation
→
CapableOf
→
increase cancer risk
|
0.34
|
|
new mutation
(subgroup of
mutation)
→
CapableOf
→
provide proliferative advantage
|
0.34
|
|
mutation
→
CapableOf
→
occur in offspring
|
0.34
|
|
mutation
→
Causes
→
alström syndrome
|
0.34
|
|
mutation
→
ReceivesAction
→
caused by error
|
0.33
|
|
mutation
→
ReceivesAction
→
a consequence of replication inaccuracies
|
0.33
|
|
mutation
→
CapableOf
→
identify limb girdle muscular dystrophy 2i
|
0.33
|
|
mutation
→
ReceivesAction
→
scattered throughout the genome
|
0.33
|
|
mutation
→
AtLocation
→
the query sequence
|
0.33
|
|
mutation
→
AtLocation
→
cis
|
0.33
|
|
mutation
→
AtLocation
→
colorectal
|
0.33
|
|
mutation
→
ReceivesAction
→
detected by ngs
|
0.33
|
|
mutation
→
CapableOf
→
originate in blood stem cells
|
0.33
|
|
mutation
→
CapableOf
→
predispose patient
|
0.33
|
|
mutation
→
ReceivesAction
→
released into a gene pool
|
0.33
|
|
mutation
→
HasProperty
→
unusual
|
0.33
|
|
mutation
→
ReceivesAction
→
associated with af
|
0.33
|
|
mutation
→
HasSubevent
→
short protein
|
0.33
|
|
mutation
→
CapableOf
→
increase chance
|
0.33
|
|
mutation
→
AtLocation
→
lung
|
0.33
|
|
mutation
→
Causes
→
intellectual disability
|
0.33
|
|
region
→
HasA
→
mutation
|
0.33
|
|
effect
(aspect of
mutation)
→
CapableOf
→
depend on mutation
|
0.33
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
increased
|
0.33
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
understood
|
0.33
|
|
effect
(aspect of
mutation)
→
HasProperty
→
negligible
|
0.33
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
shown in table
|
0.33
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
pronounced
|
0.33
|
|
effect
(aspect of
mutation)
→
HasProperty
→
smaller
|
0.33
|
|
effect
(aspect of
mutation)
→
HasProperty
→
more dramatic
|
0.33
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
abolished
|
0.33
|
|
effect
(aspect of
mutation)
→
HasProperty
→
beneficial
|
0.33
|
|
mutation
→
CapableOf
→
provide a survival advantage
|
0.33
|
|
mutation
→
CapableOf
→
confer antibiotic resistance
|
0.33
|
|
mutation
→
Causes
→
deafness
|
0.33
|
|
mutation
→
Causes
→
abnormal growth
|
0.33
|
|
mutation
→
HasSubevent
→
life
|
0.32
|
|
ionizing radiation
→
Causes
→
mutation
|
0.32
|
|
mutation
→
HasProperty
→
targetable
|
0.32
|
|
effect
(aspect of
mutation)
→
HasProperty
→
substantial
|
0.32
|
|
mutation
→
Causes
→
cystinuria
|
0.32
|
|
mutation
→
CapableOf
→
affect single gene
|
0.32
|
|
mutation
→
CapableOf
→
affect mrna splicing
|
0.32
|
|
mutation
→
ReceivesAction
→
induced by new mutagenesis techniques
|
0.32
|
|
mutation
→
ReceivesAction
→
deemed random
|
0.32
|
|
mutation
→
CapableOf
→
run in the family
|
0.32
|
|
mutation
→
CapableOf
→
increase the rate
|
0.32
|
|
mutation
→
CapableOf
→
arise in the middle east
|
0.32
|
|
mutation
→
ReceivesAction
→
shown on branch
|
0.32
|
|
mutation
→
CapableOf
→
reduce binding affinity
|
0.32
|
|
mutation
→
CapableOf
→
never been reported
|
0.32
|
|
mutation
→
HasSubevent
→
constitutive activation
|
0.32
|
|
mutation
→
CapableOf
→
affect the ribosome
|
0.32
|
|
mutation
→
ReceivesAction
→
associated with fh
|
0.32
|
|
mutation
→
ReceivesAction
→
detected in three patients
|
0.32
|
|
mutation
→
ReceivesAction
→
followed by loss of heterozygosity
|
0.32
|
|
mutation
→
CapableOf
→
occur in mtdna
|
0.32
|
|
mutation
→
HasSubevent
→
truncation
|
0.32
|
|
mutation
→
ReceivesAction
→
associated with ahus
|
0.32
|
|
mutation
→
ReceivesAction
→
accumulated over time
|
0.32
|
|
mutation
→
ReceivesAction
→
caused by environmental factors
|
0.32
|
|
mutation
→
ReceivesAction
→
implicated in pancreatic cancer
|
0.32
|
|
mutation
→
HasSubevent
→
a high cell division rate
|
0.32
|
|
mutation
→
ReceivesAction
→
sequenced
|
0.32
|
|
mutation
→
Causes
→
difference
|
0.32
|
|
mutation
→
CapableOf
→
encode neutrophil elastase
|
0.32
|
|
mutation
→
CapableOf
→
drive abnormal cell growth
|
0.32
|
|
mutation
→
CapableOf
→
confer protection
|
0.32
|
|
mutation
→
CapableOf
→
account for 80-90% of all lynch patients
|
0.32
|
|
mutation
→
CapableOf
→
occur at site
|
0.32
|
|
mutation
→
ReceivesAction
→
associated with lgmd
|
0.32
|
|
mutation
→
ReceivesAction
→
annotated
|
0.32
|
|
effect
(aspect of
mutation)
→
HasProperty
→
independent
|
0.32
|
|
virus
(aspect of
vaccine)
→
HasA
→
mutation
|
0.32
|
|
mutation
→
ReceivesAction
→
caused by smoking
|
0.32
|
|
mutation
→
CapableOf
→
affect the heart
|
0.32
|
|
mutation
→
ReceivesAction
→
associated with diabetes
|
0.32
|
|
mutation
→
ReceivesAction
→
associated with lynch syndrome
|
0.32
|
|
cosmic ray
→
Causes
→
mutation
|
0.32
|
|
female
→
HasA
→
the mutation
|
0.31
|
|
mutation
→
CapableOf
→
give edge
|
0.31
|
|
mutation
→
ReceivesAction
→
associated with antimicrobial resistance
|
0.31
|
|
mutation
→
AtLocation
→
the kinase domain
|
0.31
|
|
effect
(aspect of
mutation)
→
HasProperty
→
neutral
|
0.31
|
|
mutation
→
CapableOf
→
reduce the activity of the channel
|
0.31
|
|
mutation
→
AtLocation
→
sample
|
0.31
|
|
mutation
→
Causes
→
embryonic lethality
|
0.31
|
|
mutation
→
HasProperty
→
useless
|
0.31
|
|
somatic mutation
(subgroup of
mutation)
→
AtLocation
→
mutator phenotype human colorectal tumors
|
0.31
|
|
mutation
→
CapableOf
→
change genetic code
|
0.31
|
|
mutation
→
ReceivesAction
→
present in all of the body's cells
|
0.31
|
|
mutation
→
ReceivesAction
→
carried by the patient
|
0.31
|
|
mutation
→
CapableOf
→
act as beacon
|
0.31
|
|
mutation
→
HasSubevent
→
dramatic increase
|
0.31
|
|
mutation
→
ReceivesAction
→
incorporated
|
0.31
|
|
mutation
→
CapableOf
→
extend lifespan
|
0.31
|
|
mutation
→
HasSubevent
→
frame-shifts
|
0.31
|
|
mutation
→
HasProperty
→
proximal
|
0.31
|
|
mutation
→
AtLocation
→
tran
|
0.31
|
|
mutation
→
ReceivesAction
→
characterised by dominant or semi-dominant phenotype
|
0.31
|
|
mutation
→
CapableOf
→
accumulate in the population
|
0.31
|
|
mutation
→
CapableOf
→
occur in normal cells
|
0.31
|
|
mutation
→
AtLocation
→
plant
|
0.31
|
|
mutation
→
Causes
→
aicardi-goutieres syndrome
|
0.31
|
|
mutation
→
HasProperty
→
transmissible
|
0.31
|
|
mutation
→
CapableOf
→
delete genetic material
|
0.31
|
|
mutation
→
CapableOf
→
affect single dna nucleotide
|
0.31
|
|
mutation
→
CapableOf
→
silence microrna
|
0.31
|
|
mutation
→
AtLocation
→
low frequencies
|
0.31
|
|
mutation
→
HasSubevent
→
an in-frame deletion
|
0.31
|
|
mutation
→
HasSubevent
→
beneficial changes
|
0.31
|
|
mutation
→
ReceivesAction
→
color-coded
|
0.31
|
|
mutation
→
ReceivesAction
→
likely to affect genes
|
0.31
|
|
mutation
→
CapableOf
→
produce similar phenotype
|
0.31
|
|
mutation
→
HasSubevent
→
enzyme
|
0.31
|
|
mutation
→
ReceivesAction
→
masked by later ones
|
0.31
|
|
mutation
→
CapableOf
→
occur at low frequency
|
0.31
|
|
mutation
→
HasSubevent
→
male infertility
|
0.31
|
|
mutation
→
ReceivesAction
→
present in all affected living family members
|
0.31
|
|
mutation
→
ReceivesAction
→
likely to cause a radical change
|
0.31
|
|
mutation
→
Causes
→
dmd
|
0.31
|
|
frameshift mutation
(subgroup of
mutation)
→
HasSubevent
→
premature stop
|
0.31
|
|
mutation
→
Causes
→
muscular dystrophy
|
0.31
|
|
mutation
→
ReceivesAction
→
caused by exposure
|
0.31
|
|
effect
(aspect of
mutation)
→
HasProperty
→
deleterious
|
0.31
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
quantified
|
0.31
|
|
effect
(aspect of
mutation)
→
HasProperty
→
clear
|
0.31
|
|
effect
(aspect of
mutation)
→
HasProperty
→
selective
|
0.31
|
|
effect
(aspect of
mutation)
→
HasProperty
→
controversial
|
0.31
|
|
effect
(aspect of
mutation)
→
HasProperty
→
sensitive
|
0.31
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
documented
|
0.31
|
|
effect
(aspect of
mutation)
→
HasProperty
→
distinct
|
0.31
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
detected
|
0.31
|
|
beneficial mutation
(subgroup of
mutation)
→
ReceivesAction
→
preserved
|
0.30
|
|
mutation
→
CapableOf
→
occur at high frequency
|
0.30
|
|
mutation
→
Causes
→
mental retardation
|
0.30
|
|
mutation
→
CapableOf
→
raise the risk of breast cancer
|
0.30
|
|
mutation
→
CapableOf
→
cause other disorders
|
0.30
|
|
mutation
→
HasSubevent
→
uncontrolled cell growth
|
0.30
|
|
mutation
→
CapableOf
→
form malignant tumors
|
0.30
|
|
mutation
→
HasProperty
→
severe
|
0.30
|
|
mutation
→
HasProperty
→
difficult
|
0.30
|
|
mutation
→
CapableOf
→
increase tobramycin sensitivity
|
0.29
|
|
mutation
→
ReceivesAction
→
observed in brazil
|
0.29
|
|
mutation
→
CapableOf
→
insert genetic material
|
0.29
|
|
mutation
→
Causes
→
delay
|
0.29
|
|
mutation
→
HasProperty
→
subclonal
|
0.29
|
|
mutation
→
ReceivesAction
→
shown in blue
|
0.29
|
|
mutation
→
HasProperty
→
higher
|
0.29
|
|
mutation
→
CapableOf
→
replace the amino acid serine
|
0.29
|
|
mutation
→
ReceivesAction
→
treated with gefitinib
|
0.29
|
|
mutation
→
CapableOf
→
occur in gamete
|
0.29
|
|
mutation
→
CapableOf
→
occur in the area of the gene
|
0.29
|
|
mutation
→
IsA
→
sudden change
|
0.29
|
|
mutation
→
CapableOf
→
range in size
|
0.29
|
|
mutation
→
CapableOf
→
affect viral replication
|
0.29
|
|
mutation
→
CapableOf
→
prevent acetylation
|
0.29
|
|
mutation
→
Causes
→
early onset familial alzheimer's disease
|
0.29
|
|
mutation
→
ReceivesAction
→
associated with increased risk
|
0.29
|
|
mutation
→
ReceivesAction
→
associated with acute myeloid leukemia
|
0.29
|
|
chemical
→
Causes
→
mutation
|
0.29
|
|
mutation
→
HasA
→
dominant negative effect
|
0.29
|
|
mutation
→
ReceivesAction
→
difficult to detect
|
0.29
|
|
mutation
→
ReceivesAction
→
associated with frontotemporal dementia
|
0.29
|
|
mutation
→
ReceivesAction
→
correlated with colorectal
|
0.29
|
|
mutation
→
CapableOf
→
accumulate in gene
|
0.29
|
|
mutation
→
Causes
→
gain
|
0.28
|
|
mutation
→
CapableOf
→
affect the ability of the protein
|
0.28
|
|
mutation
→
Causes
→
inherited retinal degenerations
|
0.28
|
|
mutation
→
AtLocation
→
breast
|
0.28
|
|
mutation
→
Causes
→
dilated cardiomyopathy
|
0.28
|
|
mutation
→
ReceivesAction
→
associated with cardiomyopathy
|
0.28
|
|
mutation
→
Causes
→
cataract
|
0.28
|
|
mutation
→
AtLocation
→
tm2
|
0.28
|
|
mutation
→
HasSubevent
→
homeotic transformations
|
0.28
|
|
mutation
→
HasSubevent
→
the inactivation of mc synthesis
|
0.28
|
|
effect
(aspect of
mutation)
→
HasProperty
→
marginal
|
0.28
|
|
effect
(aspect of
mutation)
→
HasProperty
→
diverse
|
0.28
|
|
effect
(aspect of
mutation)
→
HasProperty
→
unrelated
|
0.28
|
|
effect
(aspect of
mutation)
→
HasProperty
→
synergistic
|
0.28
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
associated with change
|
0.28
|
|
effect
(aspect of
mutation)
→
HasProperty
→
true
|
0.28
|
|
effect
(aspect of
mutation)
→
HasProperty
→
useful
|
0.28
|
|
effect
(aspect of
mutation)
→
HasProperty
→
autonomous
|
0.28
|
|
effect
(aspect of
mutation)
→
HasProperty
→
widespread
|
0.28
|
|
effect
(aspect of
mutation)
→
HasProperty
→
milder
|
0.28
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
caused
|
0.28
|
|
mutation
→
CapableOf
→
give a fitness advantage
|
0.28
|
|
mutation
→
CapableOf
→
prove fatal
|
0.28
|
|
mutation
→
CapableOf
→
occur in tumor suppressor genes
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with obesity
|
0.27
|
|
mutation
→
Causes
→
familial focal segmental glomerulosclerosis
|
0.27
|
|
mutation
→
HasProperty
→
slow
|
0.27
|
|
mutation
→
CapableOf
→
change the shape of a protein
|
0.27
|
|
mutation
→
CapableOf
→
occur in reproductive cells
|
0.27
|
|
mutation
→
ReceivesAction
→
shaded
|
0.27
|
|
mutation
→
CapableOf
→
promote tissue healing
|
0.27
|
|
mutation
→
AtLocation
→
conserved domain
|
0.27
|
|
mutation
→
CapableOf
→
replace amino acid aspartic acid
|
0.27
|
|
mutation
→
Causes
→
language
|
0.27
|
|
mutation
→
CapableOf
→
inactivate p53
|
0.27
|
|
mutation
→
CapableOf
→
affect folding
|
0.27
|
|
mutation
→
CapableOf
→
be a fact of life
|
0.27
|
|
mutation
→
CapableOf
→
affect patterning
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with renal cysts
|
0.27
|
|
mutation
→
Causes
→
cmt
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with gbm
|
0.27
|
|
mutation
→
ReceivesAction
→
limited
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with rifampicin resistance
|
0.27
|
|
mutation
→
HasSubevent
→
the loss of tda production
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with increased ovulation rate
|
0.27
|
|
mutation
→
ReceivesAction
→
linked to cpvt
|
0.27
|
|
mutation
→
CapableOf
→
replace functional version of the gene
|
0.27
|
|
mutation
→
HasProperty
→
oncogenic
|
0.27
|
|
mutation
→
Causes
→
waardenburg syndrome
|
0.27
|
|
mutation
→
HasProperty
→
etiologic
|
0.27
|
|
mutation
→
ReceivesAction
→
kept in check
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with alkaptonuria
|
0.27
|
|
mutation
→
AtLocation
→
nuclear gene
|
0.27
|
|
mutation
→
Causes
→
hht
|
0.27
|
|
mutation
→
HasSubevent
→
broad-spectrum resistance
|
0.27
|
|
mutation
→
CapableOf
→
use oligonucleotide
|
0.27
|
|
mutation
→
ReceivesAction
→
highlighted
|
0.27
|
|
mutation
→
CapableOf
→
alter a gene's dna base sequence
|
0.27
|
|
mutation
→
CapableOf
→
protect against malaria
|
0.27
|
|
mutation
→
ReceivesAction
→
correlated
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with delayed parasite clearance
|
0.27
|
|
mutation
→
CapableOf
→
use next-generation sequencing
|
0.27
|
|
mutation
→
ReceivesAction
→
neglected
|
0.27
|
|
mutation
→
HasProperty
→
impossible
|
0.27
|
|
mutation
→
ReceivesAction
→
responsible for alagille syndrome
|
0.27
|
|
mutation
→
CapableOf
→
underlie common familial exudative vitreoretinopathy locus
|
0.27
|
|
mutation
→
CapableOf
→
encode intracellular part
|
0.27
|
|
mutation
→
CapableOf
→
cause other neuromuscular diseases
|
0.27
|
|
mutation
→
ReceivesAction
→
carried by neoplastic clone
|
0.27
|
|
mutation
→
ReceivesAction
→
replicated
|
0.27
|
|
mutation
→
CapableOf
→
affect protein-protein interactions
|
0.27
|
|
mutation
→
HasSubevent
→
the evolution of biodiversity
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with aniridia
|
0.27
|
|
mutation
→
CapableOf
→
occur in the nthl1 gene
|
0.27
|
|
mutation
→
Causes
→
speciation
|
0.27
|
|
mutation
→
AtLocation
→
the p53 gene
|
0.27
|
|
mutation
→
CapableOf
→
affect catalytic activity
|
0.27
|
|
mutation
→
CapableOf
→
lighten the skin
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with primary resistance
|
0.27
|
|
mutation
→
CapableOf
→
encode a wnt protein
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with isoniazid resistance
|
0.27
|
|
mutation
→
ReceivesAction
→
associated with first- and second-line drug resistance
|
0.27
|
|
mutation
→
CapableOf
→
abrogate binding
|
0.27
|
|
mutation
→
ReceivesAction
→
involved in binding to csp
|
0.27
|
|
mutation
→
CapableOf
→
impact the dna
|
0.27
|
|
mutation
→
ReceivesAction
→
reported in the hgmd
|
0.27
|
|
effect
(aspect of
mutation)
→
HasProperty
→
more severe
|
0.27
|
|
mutation
→
Causes
→
premature aging
|
0.27
|
|
mutation
→
Causes
→
serious problems
|
0.27
|
|
mutation
→
Causes
→
arrhythmia
|
0.27
|
|
mutation
→
ReceivesAction
→
never be avoided
|
0.27
|
|
injury
→
HasSubevent
→
mutation
|
0.26
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
described
|
0.26
|
|
mutation
→
AtLocation
→
colon cancer
|
0.26
|
|
mutation
→
CapableOf
→
occur in coding region
|
0.26
|
|
mutation
→
HasSubevent
→
vision loss
|
0.26
|
|
mutation
→
CapableOf
→
be a risk factor
|
0.26
|
|
mutation
→
Causes
→
primary ciliary dyskinesia
|
0.26
|
|
mutation
→
CapableOf
→
drive aggressive disease progression
|
0.26
|
|
mutation
→
HasProperty
→
devastating
|
0.26
|
|
mutation
→
ReceivesAction
→
discussed
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
absent
|
0.25
|
|
mutation
→
CapableOf
→
affect mirna function
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with ars type
|
0.25
|
|
mutation
→
HasSubevent
→
xp
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with pmf
|
0.25
|
|
mutation
→
HasProperty
→
hemizygous
|
0.25
|
|
mutation
→
ReceivesAction
→
propagated to new generations of cells
|
0.25
|
|
mutation
→
CapableOf
→
involve rearrangement
|
0.25
|
|
mutation
→
ReceivesAction
→
identified in cataractogenesis
|
0.25
|
|
mutation
→
ReceivesAction
→
identified in to3 mouse mutant
|
0.25
|
|
mutation
→
CapableOf
→
played important role
|
0.25
|
|
mutation
→
CapableOf
→
identify a ct transition
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with mesothelioma
|
0.25
|
|
mutation
→
CapableOf
→
affect specificity of gene activation
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with familial hemiplegic migraine
|
0.25
|
|
mutation
→
ReceivesAction
→
present in two archaic samples
|
0.25
|
|
mutation
→
CapableOf
→
drive pediatric glioblastoma
|
0.25
|
|
mutation
→
HasSubevent
→
overexpression
|
0.25
|
|
mutation
→
CapableOf
→
spread throughout eurasia
|
0.25
|
|
mutation
→
CapableOf
→
stop at the himalayas
|
0.25
|
|
mutation
→
CapableOf
→
arise in africa
|
0.25
|
|
mutation
→
CapableOf
→
occur in maffucci syndrome
|
0.25
|
|
mutation
→
ReceivesAction
→
acquired by smooth muscle cells
|
0.25
|
|
mutation
→
CapableOf
→
affect viability
|
0.25
|
|
mutation
→
ReceivesAction
→
enriched in tumor
|
0.25
|
|
mutation
→
CapableOf
→
destabilize optimal solution
|
0.25
|
|
mutation
→
CapableOf
→
counter the loss of genetic material
|
0.25
|
|
mutation
→
IsA
→
single base changes
|
0.25
|
|
mutation
→
CapableOf
→
affect diverse cardiac developmental pathways
|
0.25
|
|
mutation
→
HasSubevent
→
short telomeres
|
0.25
|
|
mutation
→
CapableOf
→
encode dna gyrase
|
0.25
|
|
mutation
→
ReceivesAction
→
classified as level
|
0.25
|
|
mutation
→
CapableOf
→
replace the nucleotide guanine
|
0.25
|
|
mutation
→
HasSubevent
→
premature termination
|
0.25
|
|
mutation
→
CapableOf
→
occur in microsatellite
|
0.25
|
|
mutation
→
CapableOf
→
increase genetic variation
|
0.25
|
|
mutation
→
CapableOf
→
show significant association
|
0.25
|
|
mutation
→
HasProperty
→
lower
|
0.25
|
|
mutation
→
HasProperty
→
compensatory
|
0.25
|
|
mutation
→
CapableOf
→
add genetic information
|
0.25
|
|
mutation
→
CapableOf
→
create new genes
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with dcm
|
0.25
|
|
mutation
→
CapableOf
→
affect locomotion
|
0.25
|
|
mutation
→
AtLocation
→
small fraction of all cells
|
0.25
|
|
mutation
→
HasSubevent
→
an amino acid exchange
|
0.25
|
|
mutation
→
IsA
→
a base-pair sequence change
|
0.25
|
|
mutation
→
ReceivesAction
→
fused in sarcoma
|
0.25
|
|
mutation
→
ReceivesAction
→
carried by related breeds
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with pcg
|
0.25
|
|
mutation
→
CapableOf
→
help explain high virulence of lineage
|
0.25
|
|
mutation
→
ReceivesAction
→
subject to genetic drift
|
0.25
|
|
mutation
→
CapableOf
→
encode cu/zn superoxide dismutase
|
0.25
|
|
mutation
→
CapableOf
→
occur after fertilization
|
0.25
|
|
mutation
→
ReceivesAction
→
induced by gamma radiation
|
0.25
|
|
mutation
→
CapableOf
→
use ngs
|
0.25
|
|
mutation
→
HasProperty
→
homozygous lethal
|
0.25
|
|
mutation
→
CapableOf
→
affect isoform
|
0.25
|
|
mutation
→
CapableOf
→
change the code
|
0.25
|
|
mutation
→
CapableOf
→
encode alpha-actinin-4
|
0.25
|
|
mutation
→
CapableOf
→
test for patient
|
0.25
|
|
mutation
→
ReceivesAction
→
induced by ethylnitrosourea
|
0.25
|
|
mutation
→
ReceivesAction
→
involved in the buildup of substances
|
0.25
|
|
mutation
→
Causes
→
unique form of ncl
|
0.25
|
|
mutation
→
ReceivesAction
→
made in single cycle of hiv-1 replication
|
0.25
|
|
mutation
→
ReceivesAction
→
treated with erlotinib
|
0.25
|
|
mutation
→
CapableOf
→
contribute to chronic hbv infection
|
0.25
|
|
mutation
→
CapableOf
→
occur in dog
|
0.25
|
|
mutation
→
CapableOf
→
affect srsf2
|
0.25
|
|
mutation
→
CapableOf
→
impair hematopoietic differentiation
|
0.25
|
|
mutation
→
HasSubevent
→
complete loss of activity
|
0.25
|
|
mutation
→
HasProperty
→
weak
|
0.25
|
|
mutation
→
CapableOf
→
fall into three categories
|
0.25
|
|
mutation
→
CapableOf
→
screen in certain populations
|
0.25
|
|
mutation
→
CapableOf
→
push the cell cycle
|
0.25
|
|
mutation
→
ReceivesAction
→
carried by all 18 men
|
0.25
|
|
mutation
→
CapableOf
→
predispose to ndd
|
0.25
|
|
mutation
→
CapableOf
→
sensitize cell
|
0.25
|
|
mutation
→
CapableOf
→
occur at rate
|
0.25
|
|
mutation
→
ReceivesAction
→
detected by whole genome
|
0.25
|
|
mutation
→
HasSubevent
→
hyper-igm immunodeficiency syndrome
|
0.25
|
|
mutation
→
ReceivesAction
→
unlinked
|
0.25
|
|
mutation
→
HasSubevent
→
chromosomal instability
|
0.25
|
|
mutation
→
AtLocation
→
border collies
|
0.25
|
|
mutation
→
AtLocation
→
europe
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with harp syndrome
|
0.25
|
|
mutation
→
ReceivesAction
→
linked to dyskeratosis congenita
|
0.25
|
|
mutation
→
CapableOf
→
encode α-synuclein
|
0.25
|
|
mutation
→
ReceivesAction
→
shown above structural domains
|
0.25
|
|
mutation
→
CapableOf
→
affect the stability of rt
|
0.25
|
|
mutation
→
AtLocation
→
phase
|
0.25
|
|
mutation
→
CreatedBy
→
crispr
|
0.25
|
|
mutation
→
CapableOf
→
affect morphology
|
0.25
|
|
mutation
→
HasProperty
→
antagonistic
|
0.25
|
|
mutation
→
HasProperty
→
synergistic
|
0.25
|
|
mutation
→
ReceivesAction
→
isolated in genetic screens
|
0.25
|
|
mutation
→
CapableOf
→
account for 90% of cases
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with crohn’s disease
|
0.25
|
|
mutation
→
CapableOf
→
define distinct clinical phenotypes
|
0.25
|
|
mutation
→
ReceivesAction
→
detected at baseline
|
0.25
|
|
mutation
→
CapableOf
→
change the level of metabolic complements
|
0.25
|
|
mutation
→
CapableOf
→
delete small amounts of dna
|
0.25
|
|
mutation
→
CapableOf
→
reduce viral infectivity
|
0.25
|
|
mutation
→
ReceivesAction
→
easy to detect
|
0.25
|
|
mutation
→
ReceivesAction
→
identified in 2009
|
0.25
|
|
mutation
→
Causes
→
dipg
|
0.25
|
|
mutation
→
CapableOf
→
enhance the function of apob
|
0.25
|
|
mutation
→
ReceivesAction
→
prioritized
|
0.25
|
|
mutation
→
ReceivesAction
→
discovered in 2013
|
0.25
|
|
mutation
→
Causes
→
osteogenesis imperfecta
|
0.25
|
|
mutation
→
ReceivesAction
→
buffered
|
0.25
|
|
mutation
→
Causes
→
monogenic diabetes
|
0.25
|
|
mutation
→
ReceivesAction
→
needed to confer some ability
|
0.25
|
|
mutation
→
CapableOf
→
encode a-type lamins
|
0.25
|
|
mutation
→
HasProperty
→
incidental
|
0.25
|
|
mutation
→
AtLocation
→
hematological malignancies
|
0.25
|
|
mutation
→
CapableOf
→
affect trait
|
0.25
|
|
mutation
→
ReceivesAction
→
selected in all of the evolution experiments
|
0.25
|
|
mutation
→
HasSubevent
→
block
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with benign genetic condition
|
0.25
|
|
mutation
→
CapableOf
→
occur in cat
|
0.25
|
|
mutation
→
CapableOf
→
occur in domain
|
0.25
|
|
mutation
→
CapableOf
→
affect the globule
|
0.25
|
|
mutation
→
ReceivesAction
→
caused by cosmic rays
|
0.25
|
|
mutation
→
ReceivesAction
→
identified in patients of european origin
|
0.25
|
|
mutation
→
CapableOf
→
differentiate the two haplotypes
|
0.25
|
|
mutation
→
CapableOf
→
replace the amino acid proline
|
0.25
|
|
mutation
→
ReceivesAction
→
predicted by polyphen-2
|
0.25
|
|
mutation
→
CapableOf
→
confer defect
|
0.25
|
|
mutation
→
ReceivesAction
→
detected by d-hplc/ds
|
0.25
|
|
mutation
→
ReceivesAction
→
seen in two other children
|
0.25
|
|
mutation
→
MadeOf
→
certainty
|
0.25
|
|
mutation
→
MadeOf
→
clinical applications of hescs
|
0.25
|
|
mutation
→
AtLocation
→
other organisms
|
0.25
|
|
mutation
→
CapableOf
→
activate ras
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with antifolate resistance
|
0.25
|
|
mutation
→
CapableOf
→
induce bursting of sensory neurons
|
0.25
|
|
mutation
→
CapableOf
→
cause monogenic disease
|
0.25
|
|
mutation
→
HasSubevent
→
gene inactivation
|
0.25
|
|
mutation
→
ReceivesAction
→
found within large dna regions
|
0.25
|
|
mutation
→
CapableOf
→
winnow the list of candidate genes
|
0.25
|
|
mutation
→
CapableOf
→
help identify therapeutic targets
|
0.25
|
|
mutation
→
CapableOf
→
transfected into suitable expression system
|
0.25
|
|
mutation
→
CapableOf
→
produce mutant androgen receptor protein
|
0.25
|
|
mutation
→
CapableOf
→
occur at any time
|
0.25
|
|
mutation
→
RelatedTo
→
occult infection
|
0.25
|
|
mutation
→
CapableOf
→
define 21-day biological clock
|
0.25
|
|
mutation
→
ReceivesAction
→
detected by hrm
|
0.25
|
|
mutation
→
ReceivesAction
→
transmitted to large numbers of lens cells
|
0.25
|
|
mutation
→
CapableOf
→
influence the clarity of the tissue
|
0.25
|
|
mutation
→
ReceivesAction
→
created at predefined points
|
0.25
|
|
mutation
→
ReceivesAction
→
classified into two groups
|
0.25
|
|
mutation
→
ReceivesAction
→
associated with cadasil syndrome
|
0.25
|
|
mutation
→
CapableOf
→
call antennapedia
|
0.25
|
|
mutation
→
CapableOf
→
occur in first place
|
0.25
|
|
mutation
→
CapableOf
→
affect pigmentation
|
0.25
|
|
mutation
→
CapableOf
→
occur in melanocyte
|
0.25
|
|
mutation
→
CapableOf
→
theprocess of tumorgenesis
|
0.25
|
|
mutation
→
ReceivesAction
→
reported in two other turkish families
|
0.25
|
|
mutation
→
CapableOf
→
affect gene activity levels
|
0.25
|
|
mutation
→
CapableOf
→
destabilize the complex
|
0.25
|
|
mutation
→
CapableOf
→
impair lysosomal function
|
0.25
|
|
mutation
→
CapableOf
→
affect homologous recombination
|
0.25
|
|
mutation
→
CapableOf
→
impair nhej
|
0.25
|
|
mutation
→
ReceivesAction
→
identified by exome sequencing
|
0.25
|
|
mutation
→
ReceivesAction
→
likely to be non
|
0.25
|
|
mutation
→
CapableOf
→
contribute to disease initiation
|
0.25
|
|
mutation
→
HasSubevent
→
thrombocytopenia
|
0.25
|
|
mutation
→
CapableOf
→
lymphomagenesis in a subset of tumors
|
0.25
|
|
mutation
→
HasA
→
negligible effect
|
0.25
|
|
mutation
→
HasSubevent
→
a gain of function
|
0.25
|
|
mutation
→
ReceivesAction
→
listed below the haplogroup name
|
0.25
|
|
beneficial mutation
(subgroup of
mutation)
→
HasSubevent
→
protein
|
0.25
|
|
beneficial mutation
(subgroup of
mutation)
→
CapableOf
→
become fixed in population
|
0.25
|
|
new mutation
(subgroup of
mutation)
→
Causes
→
holoprosencephaly
|
0.25
|
|
new mutation
(subgroup of
mutation)
→
ReceivesAction
→
added
|
0.25
|
|
somatic mutation
(subgroup of
mutation)
→
ReceivesAction
→
associated with breast cancer
|
0.25
|
|
somatic mutation
(subgroup of
mutation)
→
ReceivesAction
→
associated with ovarian cancer
|
0.25
|
|
somatic mutation
(subgroup of
mutation)
→
CapableOf
→
occur in single cell
|
0.25
|
|
somatic mutation
(subgroup of
mutation)
→
CapableOf
→
confer selective advantage
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
reviewed
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
abrogated
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
more significant
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
common
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
epistatic
|
0.25
|
|
effect
(aspect of
mutation)
→
CapableOf
→
could result
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
expected
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
possible
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
amplified
|
0.25
|
|
effect
(aspect of
mutation)
→
CapableOf
→
suggest role
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
unexpected
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
reproducible
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
indistinguishable
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
explored
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
general
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
established
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
noticeable
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
maximal
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
low
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
observed in vitro
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
confirmed
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
observed in wt fibers
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
exerted
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
moderate
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
critical
|
0.25
|
|
effect
(aspect of
mutation)
→
ReceivesAction
→
predicted
|
0.25
|
|
effect
(aspect of
mutation)
→
HasProperty
→
separable
|
0.25
|
|
power
(aspect of
mutation)
→
ReceivesAction
→
calculated
|
0.25
|
|
power
(aspect of
mutation)
→
ReceivesAction
→
evaluated
|
0.25
|
|
power
(aspect of
mutation)
→
CapableOf
→
reject the null
|
0.25
|
|
power
(aspect of
mutation)
→
CapableOf
→
detect difference
|
0.25
|
|
egg
(aspect of
bird)
→
HasA
→
mutation
|
0.25
|
|
gene
(aspect of
virus)
→
HasA
→
mutation
|
0.25
|
|
toxin
→
Causes
→
mutation
|
0.25
|
|
mutation
→
HasProperty
→
costly
|
0.25
|
|
mutation
→
HasSubevent
→
deficiency
|
0.25
|
|
mutation
→
Causes
→
bipolar disorder
|
0.25
|
|
mutation
→
CapableOf
→
oxidative stress
|
0.25
|
|
mutation
→
ReceivesAction
→
linked to depression
|
0.25
|
|
mutation
→
Causes
→
craniosynostosis
|
0.25
|
|
mutation
→
Causes
→
gaucher disease
|
0.25
|
|
mutation
→
CapableOf
→
encode tdp-43
|
0.25
|
|
mutation
→
HasSubevent
→
the death of motor neurons
|
0.25
|
|
mutation
→
ReceivesAction
→
identified in affected individuals
|
0.24
|
|
mutation
→
ReceivesAction
→
indicated by asterisk
|
0.24
|
|
mutation
→
CapableOf
→
affect transcriptional activation
|
0.24
|
|
effect
(aspect of
mutation)
→
HasProperty
→
devastating
|
0.24
|
|
mutation
→
HasSubevent
→
inability
|
0.24
|
|
mutation
→
Causes
→
microcephaly
|
0.24
|
|
mutation
→
Causes
→
multisystem proteinopathy
|
0.24
|
|
mutation
→
CapableOf
→
interfere with signal
|
0.24
|
|
mutation
→
Causes
→
fragile x syndrome
|
0.24
|
|
mutation
→
AtLocation
→
kidney
|
0.24
|
|
mutation
→
Causes
→
autosomal
|
0.24
|
|
mutation
→
ReceivesAction
→
correlated with gastric
|
0.24
|
|
mutation
→
ReceivesAction
→
correlated with thyroid
|
0.24
|
|
mutation
→
ReceivesAction
→
associated with immunodeficiency
|
0.24
|
|
mutation
→
Causes
→
sickle cell disease
|
0.24
|
|
mutation
→
Causes
→
fanconi anemia
|
0.24
|
|
mutation
→
Causes
→
park8-linked parkinson's disease
|
0.24
|
|
mutation
→
HasSubevent
→
case
|
0.24
|
|
mutation
→
ReceivesAction
→
located on the x chromosome
|
0.24
|
|
mutation
→
CapableOf
→
alter the product of a gene
|
0.24
|
|
mutation
→
Causes
→
developmental defects
|
0.24
|
|
mutation
→
ReceivesAction
→
seen in skeletal muscle
|
0.23
|
|
mutation
→
Causes
→
optic atrophy
|
0.22
|
|